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
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(30): Show ATGTGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	336	0.0030	37	c.108 others(54): Show c.1080+505_1080+506insATATATATATATATATATATATATATAT ATATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537940	A A	ATATATAT others(30): Show ATATATATATAATTTATATATATAATATATATATAATT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	336	0.0030	37	c.739 others(52): Show c.739-837_739-836insAATTATATATATATTATATATATAAATTAT ATATATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633595	A A	ATACTTCT others(30): Show ATACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp2 others(74): Show HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp2 HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 NA18612.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19064.hp2 NA19070.hp1 NA19075.hp1 NA19079.hp2 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(74): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0205 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0073 a0001c0001t0014g0086 a0001c0002t0001g0250 a0002c0003t0001g0207	77	318	0.2421	37	c.816 others(52): Show c.816+622_816+658dupGGATCTATCAGAGTACTTCTGATAGATCTC TCTCTCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633875	A A	ATCTCTCT others(30): Show ATCTCTCTGGATCTATCAGAATACTTCTGATAGATCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG04184.hp1 others(1): Show HG00733.hp2 HG01261.hp2 HG04184.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0104	4	318	0.0126	37	c.816 others(52): Show c.816+877_817-886dupCTCTCTCTGGATCTATCAGAATACTTCTGA TAGATCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633875	A A	ATCTCTCT others(30): Show ATCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0206 a0001c0001t0009g0206	1	318	0.0031	37	c.816 others(52): Show c.816+822_816+823insGTACTTCTGATAGATCTCTCTCTCTGGATC TATCAGA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F2_chr1_23501438_23536233	23504406	G G	GCCAGCCG others(30): Show GCCAGCCGCCCCTTCTGGGAGGTGAGGGGCACCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0304 a0001c0001t0003g0304	1	396	0.0025	37	c.54 others(48): Show c.5473_*5474insGCAGAGGTGCCCCTCACCTCCCAGAAGGGGCGGC TGG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2031		chr1	TogoVar
E2F2_chr1_23501438_23536233	23504409	A A	AGCCGCCC others(30): Show AGCCGCCCCTTCTGGGAGGTGAGGGGCACCTCTGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(233): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0006t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0020 a0002c0002t0023 a0002c0002t0028 a0003c0003t0002 a0005c0004t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0312 others(202): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0312 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0252 a0001c0001t0002g0296 a0001c0001t0002g0311 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0018 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0324 a0001c0001t0004g0010 a0001c0001t0004g0133 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0005g0013 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0006g0315 a0001c0001t0008g0030 a0001c0001t0008g0061 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0009g0325 a0001c0001t0009g0327 a0001c0001t0009g0328 a0001c0001t0012g0037 a0001c0001t0012g0040 a0001c0001t0013g0152 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0001t0015g0329 a0001c0001t0015g0330 a0001c0001t0024g0123 a0001c0001t0025g0322 a0001c0001t0026g0060 a0001c0006t0003g0282 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0208 a0002c0002t0001g0222 a0002c0002t0001g0273 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0003g0189 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0007g0332 a0002c0002t0007g0333 a0002c0002t0007g0334 a0002c0002t0007g0335 a0002c0002t0007g0336 a0002c0002t0007g0337 a0002c0002t0020g0218 a0002c0002t0023g0276 a0002c0002t0028g0338 a0003c0003t0002g0031 a0003c0003t0002g0323 a0005c0004t0001g0166	236	396	0.5960	37	c.54 others(48): Show c.5470_*5471insCGGGCAGAGGTGCCCCTCACCTCCCAGAAGGGGC GGC	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		2028		chr1	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	366	0.0027	37	c.-29 others(48): Show c.-2977_-2976insATATATATATATATATATATATATATATATTTTT TTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
ECPAS_chr9_111355685_111489383	111387822	G G	GTCTCACT others(30): Show GTCTCACTCATCGTCAGTGCAGTTATTGAGGGACAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(223): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0013 a0002c0002 others(10): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0010 a0002c0015 a0003c0005 a0004c0007 a0007c0014 a0008c0011 a0009c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0013t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0006t0001 a0002c0010t0001 a0002c0015t0001 a0003c0005t0002 a0004c0007t0001 a0007c0014t0001 a0008c0011t0001 a0009c0016t0002	a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 others(221): Show a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0006g0177 a0001c0001t0010g0350 a0001c0013t0001g0237 a0002c0002t0001g0003 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0239 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0004g0311 a0002c0002t0004g0312 a0002c0002t0005g0005 a0002c0003t0001g0006 a0002c0003t0001g0008 a0002c0003t0001g0251 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0270 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0003g0271 a0002c0003t0003g0278 a0002c0003t0003g0290 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0004t0001g0313 a0002c0004t0001g0314 a0002c0004t0001g0315 a0002c0004t0001g0316 a0002c0004t0001g0317 a0002c0004t0001g0318 a0002c0004t0001g0320 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0323 a0002c0004t0001g0325 a0002c0004t0001g0326 a0002c0004t0001g0327 a0002c0004t0001g0328 a0002c0004t0001g0329 a0002c0004t0001g0330 a0002c0004t0001g0331 a0002c0004t0001g0332 a0002c0004t0001g0333 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0006t0001g0004 a0002c0006t0001g0155 a0002c0006t0001g0157 a0002c0006t0001g0158 a0002c0006t0001g0159 a0002c0006t0001g0160 a0002c0006t0001g0307 a0002c0006t0001g0308 a0002c0006t0001g0309 a0002c0006t0001g0310 a0002c0010t0001g0324 a0002c0015t0001g0319 a0003c0005t0002g0252 a0003c0005t0002g0253 a0003c0005t0002g0254 a0003c0005t0002g0255 a0003c0005t0002g0256 a0003c0005t0002g0257 a0003c0005t0002g0258 a0003c0005t0002g0259 a0003c0005t0002g0260 a0003c0005t0002g0261 a0003c0005t0002g0262 a0003c0005t0002g0263 a0003c0005t0002g0274 a0003c0005t0002g0275 a0003c0005t0002g0276 a0003c0005t0002g0277 a0003c0005t0002g0297 a0003c0005t0002g0298 a0003c0005t0002g0299 a0003c0005t0002g0300 a0004c0007t0001g0152 a0004c0007t0001g0153 a0004c0007t0001g0162 a0004c0007t0001g0349 a0007c0014t0001g0345 a0008c0011t0001g0007 a0009c0016t0002g0250	226	354	0.6384	37	c.344 others(56): Show c.3448-1367_3448-1366insATCTGTCCCTCAATAACTGCACTGAC GATGAGTGAGA	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	31/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446475	T T	TTCTTTCT others(30): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	369	0.0027	37	c.24 others(48): Show c.2424_*2425insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2084		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446478	T T	TTTCTTTC others(30): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	369	0.0027	37	c.24 others(48): Show c.2421_*2422insGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2081		chr5	TogoVar
EDC3_chr15_74625558_74701024	74668765	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	286	0.0035	37	c.484 others(54): Show c.484+2689_484+2690insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDC4_chr16_67868052_67889499	67872928	C C	CGTGGGAC others(30): Show CGTGGGACTTTCCTGACCTCGCGGACACAGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	240	0.0042	37	c.-33 others(46): Show c.-334_-333insGTGGGACTTTCCTGACCTCGCGGACACAGGGGCGGG G	EDC4	ENSG00000038358.15	transcript	ENST00000358933.10	protein_coding		123		chr16	TogoVar
EDIL3_chr5_83935554_84389880	84132384	A A	ATATTTTA others(30): Show ATATTTTATATATAATATATATTTTAACATATATTATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03540.hp2 others(1): Show HG02895.hp2 HG02897.hp2 HG03540.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0001t0001 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0120 a0001c0002t0003g0052 a0001c0002t0005g0032 others(1): Show a0001c0001t0001g0120 a0001c0002t0003g0052 a0001c0002t0005g0032 a0001c0002t0005g0033	4	158	0.0253	37	c.469 others(54): Show c.469+4856_469+4857insCATAATATATGTTAAAATATATATTATA TATAAAATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84132411	C C	CATATATT others(30): Show CATATATTATGTATTTTATATATAATATATATTTTAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	158	0.0063	37	c.469 others(54): Show c.469+4829_469+4830insATTAAAATATATATTATATATAAAATAC ATAATATAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84132448	C C	CATATATT others(30): Show CATATATTATGTATTTTATATATAATATATATTTTAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	158	0.0063	37	c.469 others(54): Show c.469+4756_469+4792dupATTAAAATATATATTATATATAAAATAC ATAATATAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84132458	G G	GTATTTTA others(30): Show GTATTTTATATATAATATATATTTTAACATATATTATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	158	0.0063	37	c.469 others(54): Show c.469+4782_469+4783insTATAATATATGTTAAAATATATATTATA TATAAAATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84132458	G G	GTATTTTA others(30): Show GTATTTTATATATAATATATATTTTAATATATATTATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(97): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01993.hp2 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp2 NA18984.hp2 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19083.hp1 NA19083.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0014 a0001c0003t0003 a0001c0003t0005 a0001c0004t0010 a0002c0006t0002 a0003c0005t0015	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 others(97): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0092 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0154 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0063 a0001c0001t0003g0077 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0122 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0003g0153 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0071 a0001c0001t0004g0079 a0001c0001t0004g0096 a0001c0001t0004g0116 a0001c0001t0004g0140 a0001c0001t0005g0107 a0001c0001t0006g0072 a0001c0001t0007g0038 a0001c0001t0007g0108 a0001c0001t0009g0016 a0001c0001t0012g0002 a0001c0001t0013g0100 a0001c0001t0017g0015 a0001c0001t0019g0155 a0001c0001t0020g0158 a0001c0002t0001g0011 a0001c0002t0001g0066 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0129 a0001c0002t0001g0146 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0003g0064 a0001c0002t0004g0062 a0001c0002t0008g0005 a0001c0002t0014g0068 a0001c0003t0003g0043 a0001c0003t0005g0051 a0001c0004t0010g0156 a0001c0004t0010g0157 a0002c0006t0002g0037 a0003c0005t0015g0026	100	158	0.6329	37	c.469 others(54): Show c.469+4746_469+4782dupTATAATATATATTAAAATATATATTATA TATAAAATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84132485	T T	TATATATT others(30): Show TATATATTATATATTTTATATATAATATATATTTTAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG00280.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0117 a0001c0001t0003g0125 a0001c0001t0002g0117 a0001c0001t0003g0125	2	158	0.0127	37	c.469 others(54): Show c.469+4755_469+4756insGTTAAAATATATATTATATATAAAATAT ATAATATAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	358	0.0028	37	c.400 others(54): Show c.400-3626_400-3625insATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0081 a0001c0001t0012g0081	1	358	0.0028	37	c.400 others(54): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0026 a0001c0001t0002g0030	2	358	0.0056	37	c.400 others(54): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04204.hp1 HG03710.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0020 a0001c0001t0018g0017 a0001c0001t0003g0020 a0001c0001t0018g0017	2	358	0.0056	37	c.400 others(54): Show c.400-3626_400-3625insATATATATATATATATATATTTTTTTTT TTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	358	0.0028	37	c.400 others(54): Show c.400-3626_400-3625insATATATATATATATATATATATTTTTTT TTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCCGCC others(30): Show CCCCCGCCCCCCATCCTACCCCCCAGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01496.hp2 HG02615.hp1 others(2): Show HG01070.hp2 HG01496.hp2 HG02615.hp1 HG03704.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0262	5	272	0.0184	37	c.-60 others(46): Show c.-606_-605insCCCCGCCCCCCATCCTACCCCCCAGTCCCCCCGCCC T	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCCGCC others(30): Show CCCCCGCCCCCCATCCTACCCCCCCGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02148.hp1 HG02273.hp1 others(5): Show HG01243.hp2 HG02148.hp1 HG02273.hp1 HG02451.hp2 HG02886.hp2 HG03209.hp2 HG03831.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0022 others(5): Show a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0037 a0001c0002t0001g0063 a0001c0008t0001g0013 a0001c0008t0001g0014	8	272	0.0294	37	c.-60 others(46): Show c.-606_-605insCCCCGCCCCCCATCCTACCCCCCCGTCCCCCCGCCC T	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCCGCC others(30): Show CCCCCGCCCCCCATCCTACCCCCCGGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA20300.hp2 HG01109.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0204 a0001c0003t0001g0205	2	272	0.0074	37	c.-60 others(46): Show c.-606_-605insCCCCGCCCCCCATCCTACCCCCCGGTCCCCCCGCCC T	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCGCCC others(30): Show CCCCGCCCCCCATCCTACCCCCCCCGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	272	0.0037	37	c.-60 others(46): Show c.-606_-605insCCCGCCCCCCATCCTACCCCCCCCGTCCCCCCGCCC T	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCGCCC others(30): Show CCCCGCCCCCCCATCCTACCCCCCCGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	272	0.0037	37	c.-60 others(46): Show c.-606_-605insCCCGCCCCCCCATCCTACCCCCCCGTCCCCCCGCCC T	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(30): Show CCGCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02071.hp1 NA18945.hp2 others(8): Show HG01975.hp1 HG02071.hp1 NA18945.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp1 NA18990.hp2 NA19003.hp1 NA19010.hp2 NA19070.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 others(8): Show a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0216	11	272	0.0404	37	c.-51 others(46): Show c.-517_-516insCGCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCT T	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19012.hp1 NA19000.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0033 a0001c0001t0007g0023 a0001c0001t0007g0033	2	346	0.0058	37	c.-20 others(48): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36222160	A A	ACTGGTAG others(30): Show ACTGGTAGTACTTCTACCAGTACCTTCTACCAAGGCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0060 a0002c0003t0060	a0002c0003t0060g0103 a0002c0003t0060g0103	1	346	0.0029	37	c.879 others(56): Show c.879-16822_879-16821insGTAGTACTTCTACCAGTACCTTCTAC CAAGGCTTCTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB12_chr3_129396321_129433636	129425518	G G	GCACTGCA others(30): Show GCACTGCATTCCCCAGGGCTTCCCCTGGCCGAGTCATT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	386	0.0026	37	c.49+ others(52): Show c.49+2885_49+2921dupAATGACTCGGCCAGGGGAAGCCCTGGGGAA TGCAGTG	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	1/8			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	344	0.0029	37	c.128 others(56): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTC	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52485446	G G	GGATATGG others(30): Show GGATATGGTTTGTTTGGCCCCAGCAAGCTATGGTTTTA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0299 a0001c0001t0057g0299	1	396	0.0025	37	c.164 others(56): Show c.1641-4672_1641-4636dupGCAAGCTATGGTTTTAGATATGGTTT GTTTGGCCCCA	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHD1_chr2_232628604_232687776	232650560	C C	CTGAGATT others(30): Show CTGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG01891.hp2 others(10): Show HG00544.hp2 HG01109.hp2 HG01891.hp2 HG02258.hp2 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02922.hp2 HG03516.hp1 NA18951.hp2 NA18997.hp1 NA18999.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0002c0002t0001 a0003c0005t0006	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(10): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0308 a0001c0001t0005g0364 a0001c0001t0006g0035 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0007g0296 a0001c0001t0011g0038 a0002c0002t0001g0047 a0003c0005t0006g0058	13	382	0.0340	37	c.303 others(56): Show c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC CCAGCTGCCTT	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18977.hp2 HG00558.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0010 a0001c0001t0003 a0001c0003t0010	a0001c0001t0003g0116 a0001c0003t0010g0115 a0001c0001t0003g0116 a0001c0003t0010g0115	2	306	0.0065	37	c.7+4 others(50): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47718694	T T	TCCTGGGT others(30): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	398	0.0025	37	c.502 others(51): Show c.502+90_502+126dupCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTG GACTCC	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137722988	A A	AGCCCGGG others(30): Show AGCCCGGGGTGTGTCTGTGTCCGTGGTTCTGGGCCTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp1 HG02965.hp2 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0053 a0001c0007t0001g0082 a0001c0007t0001g0053 a0001c0007t0001g0082	2	170	0.0118	37	c.643 others(54): Show c.643-5341_643-5340insCGTGGTTCTGGGCCTGTGCCCGGGGTGT GTCTGTGTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137723038	T T	TCTGTGTC others(30): Show TCTGTGTCCGTGGTTCTGGGCCTGAGTCCGGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0154 a0001c0006t0001g0154	1	170	0.0059	37	c.643 others(54): Show c.643-5304_643-5303insCGTGGTTCTGGGCCTGAGTCCGGGGTGT GCCTGTGTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137723046	T T	TGTGGTTC others(30): Show TGTGGTTCTGGGCCTGAACCGGGGGTGTGTCTGTGTCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0116 a0001c0005t0001g0116	1	170	0.0059	37	c.643 others(54): Show c.643-5287_643-5286insACCGGGGGTGTGTCTGTGTCCGTGGTTC TGGGCCTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137723194	T T	TGTGGTTC others(30): Show TGTGGTTCTGGGCCTGAGCCCGGGGTGTGTCTGTGTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp1 NA18906.hp2 HG01891.hp1 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139	3	170	0.0177	37	c.643 others(54): Show c.643-5127_643-5126insTCTGTGTCCGTGGTTCTGGGCCTGAGCC CGGGGTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137723249	C C	CCCGGGGT others(30): Show CCCGGGGTGTGTCTGTGTCCGTGGTTCTGGGCCTGAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	170	0.0059	37	c.643 others(54): Show c.643-5090_643-5089insTCTGTGTCCGTGGTTCTGGGCCTGAGTC CGGGGTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137723342	C C	CGTGGTTC others(30): Show CGTGGTTCTGGGCCTGAGCCCGGGGTGTGTCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0158 a0001c0008t0001g0158	1	170	0.0059	37	c.643 others(54): Show c.643-4977_643-4976insCGTGTCTGTGGTTCTGGGCCTGAGCCCG GGGTGTGTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818867	G G	GTGTACCG others(30): Show GTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG03225.hp1 HG01884.hp1 HG02723.hp1 HG03225.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0009 a0002c0010 a0009c0027 a0001c0009 a0002c0010 a0009c0027	a0001c0009t0001 a0002c0010t0001 a0009c0027t0001 a0001c0009t0001 a0002c0010t0001 a0009c0027t0001	a0001c0009t0001g0061 a0002c0010t0001g0168 a0009c0027t0001g0125 a0001c0009t0001g0061 a0002c0010t0001g0168 a0009c0027t0001g0125	3	170	0.0177	37	c.354 others(54): Show c.3540+740_3540+741insTGTAGAGAGGCTGAGGGGGGGCGCCATG TACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819399	G G	GTGTACCG others(30): Show GTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG03225.hp1 HG01884.hp1 HG02723.hp1 HG03225.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0009 a0002c0010 a0009c0027 a0001c0009 a0002c0010 a0009c0027	a0001c0009t0001 a0002c0010t0001 a0009c0027t0001 a0001c0009t0001 a0002c0010t0001 a0009c0027t0001	a0001c0009t0001g0061 a0002c0010t0001g0168 a0009c0027t0001g0125 a0001c0009t0001g0061 a0002c0010t0001g0168 a0009c0027t0001g0125	3	170	0.0177	37	c.354 others(56): Show c.3540+1272_3540+1273insTGTAGAGAGGCTGAGGGGGGGCGCCA TGTACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT2_chr6_31874759_31902698	31882519	G G	GGGGGTCA others(30): Show GGGGGTCAGAGGAGGCTGGCTGCTCAGCTGCAGGAATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	413	0.0024	37	c.319 others(54): Show c.3197+179_3197+180insTATTCCTGCAGCTGAGCAGCCAGCCTCC TCTGACCCC	EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding	25/27			chr6	TogoVar
EHMT2_chr6_31874759_31902698	31882531	C C	CGGCTGGC others(30): Show CGGCTGGCTGCTCAGCTGCAGGAATAGGGGTCAGAGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	413	0.0024	37	c.319 others(54): Show c.3197+131_3197+167dupTCCTCTGACCCCTATTCCTGCAGCTGAG CAGCCAGCC	EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding	25/27			chr6	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	418	0.0024	37	c.119 others(54): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	418	0.0024	37	c.119 others(54): Show c.119-1910_119-1909insATATATATATATATATATATATATATTT TTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar

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Search Results (Total: 3614 hits)