Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results 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
ABR_chr17_998519_1184981	1009235	TCCCCACT others(10): Show TCCCCACTGCTGTCCACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02015.hp2 HG02055.hp2 others(24): Show HG01109.hp2 HG02015.hp2 HG02055.hp2 HG02165.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03688.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 others(17): Show a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0031 a0001c0001t0075 a0001c0001t0078 a0001c0001t0088 a0001c0002t0060 a0001c0003t0016 a0001c0003t0021 a0001c0003t0023 a0001c0003t0024 a0001c0003t0025 a0001c0003t0051 a0001c0003t0052 a0001c0003t0080 a0001c0003t0083 a0001c0004t0024 a0001c0004t0037	a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0019g0057 others(24): Show a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0019g0057 a0001c0001t0019g0211 a0001c0001t0019g0221 a0001c0001t0021g0284 a0001c0001t0023g0035 a0001c0001t0031g0240 a0001c0001t0031g0241 a0001c0001t0075g0156 a0001c0001t0078g0289 a0001c0001t0088g0299 a0001c0002t0060g0234 a0001c0003t0016g0163 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0021g0276 a0001c0003t0023g0005 a0001c0003t0024g0040 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0003t0051g0106 a0001c0003t0052g0220 a0001c0003t0080g0287 a0001c0003t0083g0285 a0001c0004t0024g0041 a0001c0004t0037g0017	27	337	0.0801	-17	c.234 others(34): Show c.2342+427_2342+443delGGTGGACAGCAGTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	21/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02165.hp1 others(3): Show HG00438.hp2 HG00621.hp2 HG02165.hp1 HG03225.hp2 NA18747.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0003t0054	a0001c0001t0002g0138 a0001c0001t0003g0143 a0001c0001t0004g0250 others(3): Show a0001c0001t0002g0138 a0001c0001t0003g0143 a0001c0001t0004g0250 a0001c0001t0004g0329 a0001c0001t0010g0298 a0001c0003t0054g0231	6	337	0.0178	-17	c.640 others(32): Show c.640-415_640-399delTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146778	GGCCACCA others(10): Show GGCCACCACTGCCACCAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(118): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19080.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0044 a0001c0001t0049 a0001c0001t0057 a0001c0001t0059 a0001c0001t0063 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0087 a0001c0002t0001 a0001c0002t0002 a0001c0002t0056 a0001c0003t0023 a0001c0003t0025 a0001c0010t0001 a0001c0014t0010	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0002g0053 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0170 a0001c0001t0002g0180 a0001c0001t0002g0209 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0003g0130 a0001c0001t0003g0150 a0001c0001t0003g0168 a0001c0001t0003g0192 a0001c0001t0003g0200 a0001c0001t0003g0222 a0001c0001t0004g0248 a0001c0001t0004g0290 a0001c0001t0004g0297 a0001c0001t0004g0319 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0266 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0291 a0001c0001t0005g0296 a0001c0001t0005g0304 a0001c0001t0005g0318 a0001c0001t0005g0322 a0001c0001t0006g0055 a0001c0001t0006g0077 a0001c0001t0006g0090 a0001c0001t0006g0141 a0001c0001t0006g0147 a0001c0001t0006g0208 a0001c0001t0007g0249 a0001c0001t0007g0281 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0333 a0001c0001t0008g0019 a0001c0001t0008g0042 a0001c0001t0009g0004 a0001c0001t0009g0023 a0001c0001t0010g0274 a0001c0001t0010g0314 a0001c0001t0010g0321 a0001c0001t0011g0246 a0001c0001t0012g0093 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0014g0243 a0001c0001t0015g0275 a0001c0001t0015g0292 a0001c0001t0019g0057 a0001c0001t0019g0211 a0001c0001t0021g0272 a0001c0001t0022g0047 a0001c0001t0023g0035 a0001c0001t0029g0116 a0001c0001t0030g0210 a0001c0001t0032g0303 a0001c0001t0033g0264 a0001c0001t0036g0044 a0001c0001t0044g0021 a0001c0001t0049g0193 a0001c0001t0057g0174 a0001c0001t0059g0166 a0001c0001t0063g0189 a0001c0001t0067g0091 a0001c0001t0069g0153 a0001c0001t0072g0175 a0001c0001t0073g0245 a0001c0001t0074g0115 a0001c0001t0076g0171 a0001c0001t0077g0067 a0001c0001t0079g0267 a0001c0001t0081g0253 a0001c0001t0082g0302 a0001c0001t0087g0311 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0002g0100 a0001c0002t0002g0172 a0001c0002t0056g0155 a0001c0003t0023g0005 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0010t0001g0139 a0001c0014t0010g0307	121	337	0.3591	-17	c.62- others(34): Show c.62-21428_62-21412delATGGTGGCAGTGGTGGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABT1_chr6_26591953_26605739	26602591	TAGGAAAA others(10): Show TAGGAAAATACCAGTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0004	1	410	0.0024	-17	c.39 others(28): Show c.3947_*3963delAGGAAAATACCAGTCAC	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding		1853		chr6	TogoVar
ACAA2_chr18_49777164_49818533	49788505	GGCTACTG others(10): Show GGCTACTGATTTACTACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(86): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00738.hp2 HG01109.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG03490.hp1 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19055.hp1 NA19057.hp2 NA19062.hp2 NA19068.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA20300.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0007 a0006c0008 a0001c0001 a0005c0007 a0006c0008	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0005c0007t0009 a0006c0008t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(55): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0009g0016 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0009g0056 a0001c0001t0009g0066 a0001c0001t0013g0089 a0001c0001t0014g0026 a0001c0001t0014g0065 a0001c0001t0014g0088 a0001c0001t0022g0229 a0001c0001t0023g0340 a0005c0007t0009g0073 a0006c0008t0002g0084	89	434	0.2051	-17	c.884 others(34): Show c.884-1161_884-1145delTGTAGTAAATCAGTAGC	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	7/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37173993	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	299	0.0033	-17	c.507 others(36): Show c.5079+5250_5079+5266delTATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260284	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18977.hp2 HG00673.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0212 a0001c0001t0001g0185 a0001c0001t0001g0212	2	299	0.0067	-17	c.133 others(34): Show c.1330-771_1330-755delAAAAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260286	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 HG01515.hp2 others(4): Show HG00438.hp2 HG01192.hp2 HG01515.hp2 HG02735.hp1 NA18994.hp2 NA19010.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0001g0184 a0001c0001t0001g0196 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0252 a0001c0001t0001g0290 a0001c0001t0003g0112	7	299	0.0234	-17	c.133 others(34): Show c.1330-773_1330-757delAAAAAAATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260288	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp2 NA19066.hp2 NA18945.hp2 NA18946.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0141 a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0141	3	299	0.0100	-17	c.133 others(34): Show c.1330-775_1330-759delAAAAAAAAATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACADM_chr1_75719709_75768679	75737281	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	364	0.0028	-17	c.468 others(34): Show c.468+2411_468+2427delATATATATATATATATA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11			chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG03688.hp2 others(2): Show HG01109.hp2 HG02257.hp1 HG03688.hp2 HG04228.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0005 a0001c0001t0002 a0001c0004t0005	a0001c0001t0002g0124 a0001c0001t0002g0145 a0001c0001t0002g0150 others(2): Show a0001c0001t0002g0124 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0234 a0001c0004t0005g0291	5	364	0.0137	-17	c.946 others(32): Show c.946-558_946-542delAAAAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045165	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0173 a0002c0003t0001g0173	1	374	0.0027	-17	c.900 others(32): Show c.900+682_900+698delATATATTTTTTTTTTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACADVL_chr17_7214938_7230266	7221420	CACTGCCC others(10): Show CACTGCCCTAGGTCAGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0012 a0001c0014 a0002c0002 a0003c0003 a0004c0005 a0005c0006 a0006c0008 a0007c0015 a0010c0013	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(10): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0012t0001 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0008t0001 a0007c0015t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0004t0001g0008 a0001c0007t0001g0001 a0001c0012t0001g0001 a0001c0014t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0002g0003 a0003c0003t0001g0004 a0003c0003t0001g0033 a0004c0005t0001g0007 a0005c0006t0001g0012 a0005c0006t0001g0016 a0006c0008t0001g0022 a0006c0008t0001g0023 a0007c0015t0001g0027 a0010c0013t0001g0030	287	398	0.7211	-17	c.478 others(30): Show c.478-92_478-76delAGGTCAGGAACTGCCCT	ACADVL	ENSG00000072778.20	transcript	ENST00000356839.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACAP1_chr17_7331529_7356477	7334314	GGGGAGGC others(10): Show GGGGAGGCTAAGGTGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	446	0.0022	-17	c.-24 others(28): Show c.-2420_-2404delGGGAGGCTAAGGTGGGA	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding		2214		chr17	TogoVar
ACAP2_chr3_195269745_195448020	195324500	TCCGAGCA others(10): Show TCCGAGCACATTGGGAGG	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	324	0.0031	-17	c.744 others(34): Show c.744+2368_744+2384delCCTCCCAATGTGCTCGG	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	9/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195424283	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	324	0.0031	-17	c.53+ others(34): Show c.53+18495_53+18511delAAAAAAAAAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288494	CCCGTGTC others(10): Show CCCGTGTCTCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0006 a0005c0018t0006	a0005c0018t0006g0078 a0005c0018t0006g0078	1	295	0.0034	-17	c.50 others(28): Show c.5053_*5069delACGGGGCAGAGACACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3896		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1310876	CGGCTCTG others(10): Show CGGCTCTGGGTCACAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02257.hp1 NA20905.hp1 HG01361.hp2 HG02257.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0195 a0001c0001t0001g0033 a0001c0001t0001g0195	3	295	0.0102	-17	c.-30 others(28): Show c.-3078_-3062delACCTGTGACCCAGAGCC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2947		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108151631	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0304 a0002c0002t0002g0304	1	386	0.0026	-17	c.42 others(28): Show c.4242_*4258delAAAAAAAAAAAAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		4029		chr11	TogoVar
ACBD3_chr1_226139679_226191741	226148459	CACATGCA others(10): Show CACATGCAAATGAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0122 a0002c0002t0003g0122	1	396	0.0025	-17	c.137 others(36): Show c.1376-1655_1376-1639delATTTCTCATTTGCATGT	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	7/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180361264	CTTTTTTT others(10): Show CTTTTTTTTTCCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02970.hp2 HG03209.hp1 HG01074.hp2 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016	3	334	0.0090	-17	c.663 others(36): Show c.663+36235_663+36251delAAAAAAGGAAAAAAAAA	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	6/7			chr1	TogoVar
ACER2_chr9_19404009_19457505	19453187	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01243.hp2 others(36): Show HG00741.hp2 HG01074.hp1 HG01243.hp2 HG01261.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0003t0005 a0001c0009t0004 a0003c0004t0004 a0004c0005t0017	a0001c0001t0001g0108 a0001c0001t0004g0094 a0001c0001t0004g0097 others(35): Show a0001c0001t0001g0108 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0004g0115 a0001c0001t0004g0126 a0001c0001t0004g0201 a0001c0001t0004g0213 a0001c0001t0006g0015 a0001c0001t0006g0081 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0090 a0001c0001t0006g0092 a0001c0001t0006g0275 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0328 a0001c0001t0011g0091 a0001c0001t0011g0109 a0001c0001t0011g0110 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0014g0301 a0001c0001t0014g0335 a0001c0001t0016g0067 a0001c0001t0016g0093 a0001c0003t0005g0322 a0001c0009t0004g0293 a0003c0004t0004g0123 a0003c0004t0004g0124 a0003c0004t0004g0125 a0003c0004t0004g0130 a0003c0004t0004g0131 a0003c0004t0004g0297 a0003c0004t0004g0313 a0004c0005t0017g0100	39	358	0.1089	-17	c.25 others(28): Show c.2552_*2568delTTTTTTTTTTTTTTTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding		683		chr9	TogoVar
ACER3_chr11_76855918_77031797	76867481	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0120 a0002c0002t0120	a0002c0002t0120g0225 a0002c0002t0120g0225	1	346	0.0029	-17	c.103 others(34): Show c.103+6406_103+6422delAAAAAAAAAAAAAGAAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76887000	CAATATAT others(10): Show CAATATATAAAGTTTAAG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0137 a0001c0003t0137	a0001c0003t0137g0121 a0001c0003t0137g0121	1	346	0.0029	-17	c.103 others(36): Show c.103+25925_103+25941delATATAAAGTTTAAGAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76950394	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01981.hp1 others(3): Show HG00140.hp2 HG01255.hp2 HG01981.hp1 HG02056.hp1 NA18961.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0022 a0001c0001t0034 a0001c0001t0054	a0001c0001t0007g0149 a0001c0001t0008g0058 a0001c0001t0014g0206 others(3): Show a0001c0001t0007g0149 a0001c0001t0008g0058 a0001c0001t0014g0206 a0001c0001t0022g0080 a0001c0001t0034g0098 a0001c0001t0054g0164	6	346	0.0173	-17	c.215 others(34): Show c.215-8582_215-8566delATATATATATATATAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACLY_chr17_41861918_41923951	41879647	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01168.hp1 others(28): Show HG00673.hp1 HG01074.hp2 HG01168.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01516.hp1 HG01981.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02523.hp2 HG02735.hp1 HG02809.hp1 HG03492.hp1 HG03834.hp2 HG03942.hp2 NA18939.hp1 NA18946.hp1 NA18957.hp2 NA18965.hp2 NA18969.hp2 NA18974.hp1 NA18997.hp2 NA19009.hp2 NA19011.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0002c0002t0010	a0001c0001t0001g0071 a0001c0001t0001g0119 a0001c0001t0001g0133 others(28): Show a0001c0001t0001g0071 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0190 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0291 a0001c0007t0002g0036 a0002c0002t0010g0264	31	294	0.1054	-17	c.226 others(34): Show c.2266-740_2266-724delTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41904247	AAGGAAGG others(10): Show AAGGAAGGGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	294	0.0034	-17	c.106 others(34): Show c.1065+465_1065+481delCCCTCCCCTCCCTTCCT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	10/28			chr17	TogoVar
ACOT11_chr1_54543228_54615329	54551326	TCTGGTCC others(10): Show TCTGGTCCCTACTCGCCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0189 a0002c0002t0007g0189	1	388	0.0026	-17	c.33+ others(32): Show c.33+2989_33+3005delTCCCTACTCGCCCCTGG	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599172	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 NA19079.hp1 HG00642.hp1 HG00738.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0261 a0001c0001t0002g0310 a0001c0001t0002g0044 a0001c0001t0002g0261 a0001c0001t0002g0310	3	388	0.0077	-17	c.765 others(32): Show c.765-122_765-106delAAAAAAAAATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599174	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01361.hp2 HG03491.hp1 others(4): Show HG01081.hp2 HG01361.hp2 HG03491.hp1 HG03492.hp2 NA18952.hp2 NA18983.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0001c0001t0001 a0001c0001t0002 a0001c0007t0002	a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0002g0004 others(4): Show a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0144 a0001c0001t0002g0370 a0001c0007t0002g0210	7	388	0.0180	-17	c.765 others(32): Show c.765-120_765-104delAAAAAAATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599176	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01099.hp2 others(17): Show HG00735.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02300.hp1 HG03654.hp1 NA18950.hp1 NA18954.hp1 NA18974.hp2 NA19090.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0006c0010t0002	a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0273 others(17): Show a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0273 a0001c0001t0002g0047 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0151 a0001c0001t0002g0216 a0001c0001t0002g0259 a0001c0001t0002g0266 a0001c0001t0002g0368 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0375 a0001c0001t0002g0377 a0001c0001t0002g0386 a0002c0002t0004g0098 a0006c0010t0002g0225 a0006c0010t0002g0318	20	388	0.0516	-17	c.765 others(32): Show c.765-118_765-102delAAAAATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599178	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01167.hp1 others(6): Show HG00323.hp1 HG01074.hp1 HG01167.hp1 HG01346.hp2 HG02083.hp2 HG02698.hp2 HG03017.hp1 NA18966.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0010 a0001c0001t0001 a0001c0006t0010	a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0153 others(6): Show a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0153 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0322 a0001c0006t0010g0200	9	388	0.0232	-17	c.765 others(32): Show c.765-116_765-100delAAATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599180	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG02132.hp1 others(12): Show HG00423.hp1 HG01106.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 NA18942.hp2 NA18948.hp2 NA18983.hp2 NA18989.hp1 NA19002.hp2 NA19009.hp1 NA19055.hp2 NA19081.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0009 a0001c0001 a0001c0013 a0002c0009	a0001c0001t0001 a0001c0001t0005 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0013t0001 a0002c0009t0007	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0145 a0001c0001t0001g0198 a0001c0001t0001g0220 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0271 a0001c0001t0001g0340 a0001c0001t0005g0138 a0001c0013t0001g0125 a0001c0013t0001g0233 a0002c0009t0007g0108	15	388	0.0387	-17	c.765 others(31): Show c.765-114_765-98delATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599182	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG02735.hp1 others(3): Show HG00280.hp2 HG00639.hp1 HG02735.hp1 HG03710.hp2 NA18962.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0126 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0126 a0001c0001t0001g0284 a0001c0001t0001g0295 a0001c0001t0002g0291	6	388	0.0155	-17	c.765 others(31): Show c.765-113_765-97delTATATATATATATATAT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6323732	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03486.hp2 HG03516.hp1 others(1): Show HG02683.hp1 HG03486.hp2 HG03516.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0005g0213 others(1): Show a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0005g0213 a0001c0001t0005g0214	4	240	0.0167	-17	c.625 others(34): Show c.625+3550_625+3566delATATATATATATTTTTT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	5/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6323734	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02965.hp1 others(7): Show HG02615.hp2 HG02622.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03540.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0004g0211 others(7): Show a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0005g0212 a0001c0001t0005g0215 a0001c0001t0005g0239 a0001c0001t0011g0237 a0001c0001t0011g0238	10	240	0.0417	-17	c.625 others(34): Show c.625+3548_625+3564delATATATATATATATTTT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	5/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6323736	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	240	0.0042	-17	c.625 others(34): Show c.625+3546_625+3562delATATATATATATATATT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	5/8			chr1	TogoVar
ACOX2_chr3_58500136_58542190	58510652	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0045 a0001c0004t0001g0045	1	364	0.0028	-17	c.185 others(36): Show c.1851-1644_1851-1628delATATATTTTTTTTTTTT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510658	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	364	0.0028	-17	c.185 others(36): Show c.1851-1650_1851-1634delATATATATATATTTTTT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510660	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	364	0.0028	-17	c.185 others(36): Show c.1851-1652_1851-1636delATATATATATATATTTT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX3_chr4_8361282_8445723	8385010	GGCCCCCC others(10): Show GGCCCCCCACACGCAGCA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	380	0.0026	-17	c.153 others(36): Show c.1538-3420_1538-3404delTGCTGCGTGTGGGGGGC	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	13/17			chr4	TogoVar
ACOXL_chr2_110727573_111123548	110826751	GCTTTTTT others(10): Show GCTTTTTTTTTTTTTTTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02976.hp1 others(5): Show HG01891.hp2 HG02257.hp2 HG02976.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp1 NA19030.hp1 NA20300.hp2	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0006c0006 a0014c0020 a0001c0001 a0006c0006 a0014c0020	a0001c0001t0001 a0006c0006t0002 a0014c0020t0001 a0001c0001t0001 a0006c0006t0002 a0014c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0145 a0001c0001t0001g0150 a0006c0006t0002g0146 a0014c0020t0001g0002	8	150	0.0533	-17	c.754 others(36): Show c.754-14608_754-14592delTTTTTCCTTTTTTTTTT	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP2_chr11_47234302_47253814	47245059	AAAAGTGA others(10): Show AAAAGTGAGACTCAGCAG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	358	0.0028	-17	c.640 others(32): Show c.640-209_640-193delCTGCTGAGTCTCACTTT	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	6/10			chr11	TogoVar
ACSBG2_chr19_6130667_6198091	6184832	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	262	0.0038	-17	c.132 others(34): Show c.1323-580_1323-564delAAAAAAAAAAAAAAAAA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL3_chr2_222856036_222949639	222875244	TTTTATCA others(10): Show TTTTATCACTGATAAAAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp2 HG01433.hp2 others(3): Show HG00280.hp2 HG01346.hp2 HG01433.hp2 HG03041.hp2 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0130 a0001c0001t0006g0133 a0001c0001t0006g0134 others(3): Show a0001c0001t0006g0130 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0019g0131	6	252	0.0238	-17	c.-20 others(38): Show c.-206-12573_-206-12557delAAAACTTTATCACTGAT	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSL5_chr10_112369116_112433376	112395139	CCTCAAAC others(10): Show CCTCAAACTCAAACTGTA	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0053 a0002c0002t0003g0053	1	364	0.0028	-17	c.156 others(30): Show c.156+38_156+54delCTCAAACTCAAACTGTA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	2/20			chr10	TogoVar
ACSL6_chr5_131944973_132016658	131958166	TCATGATA others(10): Show TCATGATACTCTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0134 a0001c0001t0030g0134	1	326	0.0031	-17	c.203 others(36): Show c.2031+1353_2031+1369delGCACACAGAGTATCATG	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	20/20			chr5	TogoVar
ACSM1_chr16_20618235_20702680	20691789	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	318	0.0031	-17	c.-51 others(32): Show c.-51-567_-51-551delACACACACACACACACA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	1/13			chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20483569	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG03139.hp2 others(1): Show HG02145.hp2 HG03130.hp2 HG03139.hp2 NA20300.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0011 a0003c0003 a0011c0011	a0003c0003t0005 a0011c0011t0005 a0003c0003t0005 a0011c0011t0005	a0003c0003t0005g0176 a0011c0011t0005g0274 a0011c0011t0005g0275 others(1): Show a0003c0003t0005g0176 a0011c0011t0005g0274 a0011c0011t0005g0275 a0011c0011t0005g0276	4	436	0.0092	-17	c.162 others(34): Show c.1629+409_1629+425delAAAAAAAAAAAAAAAAA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS3_chr12_81073079_81266210	81121036	TTTGGTTG others(10): Show TTTGGTTGAGCGATGTAG	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0279 a0002c0003t0005g0279	1	290	0.0035	-17	c.456 others(36): Show c.456+11333_456+11349delTTGGTTGAGCGATGTAG	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	2/15			chr12	TogoVar

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Search Results (Total: 9132 hits)