Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DUSP16_chr12_12468282_12567863	12498399	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(45): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02273.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG03239.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18988.hp2 NA18998.hp2 NA19077.hp2 NA19082.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0002 a0001c0001t0018 a0001c0001t0030 others(4): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0058 a0001c0004t0002 a0001c0010t0017	a0001c0001t0002g0004 a0001c0001t0002g0109 a0001c0001t0002g0119 others(44): Show a0001c0001t0002g0004 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0172 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0018g0239 a0001c0001t0018g0302 a0001c0001t0030g0071 a0001c0001t0031g0082 a0001c0001t0058g0235 a0001c0004t0002g0208 a0001c0004t0002g0217 a0001c0004t0002g0221 a0001c0004t0002g0225 a0001c0004t0002g0229 a0001c0004t0002g0237 a0001c0004t0002g0319 a0001c0010t0017g0262	48	352	0.1364	8	c.531 others(25): Show c.531+2112_531+2119dupATAAATAA	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	4/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12525731	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02738.hp2 HG03654.hp2 others(8): Show HG01109.hp1 HG02738.hp2 HG03654.hp2 NA18978.hp2 NA18993.hp2 NA19064.hp1 NA19076.hp1 NA19077.hp1 NA19084.hp2 NA19089.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0028 a0001c0001t0045 a0001c0001t0057 a0003c0005t0008	a0001c0001t0001g0177 a0001c0001t0001g0278 a0001c0001t0001g0282 others(8): Show a0001c0001t0001g0177 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0005g0283 a0001c0001t0005g0291 a0001c0001t0006g0072 a0001c0001t0006g0079 a0001c0001t0028g0080 a0001c0001t0045g0154 a0001c0001t0057g0162 a0003c0005t0008g0281	11	352	0.0313	8	c.-36 others(27): Show c.-365-4276_-365-4269dupGTGTGTGT	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12566050	T T	TCTGCCCC others(1): Show TCTGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02630.hp2 others(4): Show HG01167.hp1 HG01169.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG03471.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0003 a0001c0001 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0017 a0001c0001t0038 others(3): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0038 a0001c0001t0056 a0001c0010t0017 a0002c0003t0004	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0017g0269 others(4): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0017g0269 a0001c0001t0038g0324 a0001c0001t0056g0274 a0001c0010t0017g0262 a0002c0003t0004g0185	7	352	0.0199	8	c.-43 others(19): Show c.-4300_-4299insCGGGGCAG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding		3188		chr12	TogoVar
DUSP18_chr22_30656445_30672875	30669675	C C	CATATATA others(1): Show CATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(16): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01109.hp1 HG01361.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02970.hp2 HG03239.hp2 HG03579.hp1 HG03704.hp2 NA18993.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0021 a0001c0001t0024 a0001c0001t0042 a0001c0001t0046 a0001c0001t0055 a0001c0001t0063	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0002g0008 a0001c0001t0003g0007 a0001c0001t0004g0009 a0001c0001t0004g0033 a0001c0001t0006g0077 a0001c0001t0009g0038 a0001c0001t0013g0020 a0001c0001t0021g0187 a0001c0001t0024g0081 a0001c0001t0042g0083 a0001c0001t0046g0070 a0001c0001t0055g0084 a0001c0001t0063g0136	19	448	0.0424	8	c.-22 others(19): Show c.-2292_-2291insATATATAT	DUSP18	ENSG00000167065.14	transcript	ENST00000334679.4	protein_coding		1801		chr22	TogoVar
DUSP19_chr2_183073747_183105008	183082836	T T	TCCTCCCT others(1): Show TCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG06807.hp2 NA18906.hp1 HG03098.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0018 a0001c0001t0021g0018 a0001c0001t0001g0018 a0001c0001t0021g0018	3	328	0.0092	8	c.227 others(23): Show c.227-651_227-644dupCCTCCCTC	DUSP19	ENSG00000162999.13	transcript	ENST00000354221.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
DUSP1_chr5_172763096_172776195	172763351	C C	CCACACGA others(1): Show CCACACGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 NA18944.hp1 NA18963.hp2 others(7): Show HG02083.hp2 NA18944.hp1 NA18963.hp2 NA18989.hp1 NA19000.hp1 NA19003.hp2 NA19057.hp1 NA19070.hp2 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	10	462	0.0217	8	c.54 others(19): Show c.5410_*5411insCTCGTGTG	DUSP1	ENSG00000120129.6	transcript	ENST00000239223.4	protein_coding		4744		chr5	TogoVar
DUSP21_chrX_44839021_44849888	44849235	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	285	0.0035	8	c.45 others(19): Show c.4530_*4531insTTTTTTTT	DUSP21	ENSG00000189037.8	transcript	ENST00000339042.6	protein_coding		4348		chrX	TogoVar
DUSP22_chr6_287487_356355	309679	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01981.hp1 HG02273.hp1 others(2): Show HG01978.hp1 HG01981.hp1 HG02273.hp1 NA18747.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0036 a0001c0001t0004g0115 others(1): Show a0001c0001t0004g0003 a0001c0001t0004g0036 a0001c0001t0004g0115 a0001c0001t0004g0116	5	221	0.0226	8	c.56- others(23): Show c.56-2169_56-2162dupCACACACA	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP22_chr6_287487_356355	346429	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00609.hp2 others(75): Show HG00280.hp2 HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp2 NA18982.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19076.hp1 NA19079.hp1 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0003g0044 a0001c0001t0003g0050 a0001c0001t0003g0074 a0001c0001t0003g0096 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0185 a0001c0001t0003g0198 a0001c0001t0004g0003 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0068 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0005g0101 a0001c0001t0005g0105 a0001c0001t0008g0015 a0001c0001t0008g0020 a0001c0001t0013g0021 a0001c0003t0001g0181 a0001c0003t0001g0193 a0001c0003t0003g0113	78	221	0.3529	8	c.263 others(23): Show c.263+523_263+530dupCACACACA	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP26_chr8_33586330_33605023	33587510	C C	CTTCTTTC others(1): Show CTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01358.hp2 others(26): Show HG00408.hp2 HG00544.hp2 HG01358.hp2 HG01516.hp2 HG01928.hp2 HG02015.hp1 HG02257.hp1 HG02486.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 NA18522.hp2 NA18959.hp1 NA18973.hp1 NA18979.hp1 NA18986.hp2 NA18990.hp1 NA19006.hp2 NA19030.hp1 NA19082.hp2 NA19086.hp1 NA19089.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0002g0003 a0001c0001t0002g0145 a0001c0001t0004g0008 a0001c0001t0005g0021 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0003t0001g0016 a0001c0007t0001g0125	29	420	0.0691	8	c.45 others(19): Show c.4502_*4503insAGAAAGAA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3819		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33587567	T T	TTCTTTTT others(1): Show TTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00673.hp1 others(42): Show HG00140.hp1 HG00280.hp2 HG00673.hp1 HG00733.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01346.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02809.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp1 HG03486.hp1 HG03654.hp2 HG04204.hp2 NA18943.hp1 NA18947.hp1 NA18954.hp2 NA18959.hp2 NA18969.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18999.hp2 NA19009.hp2 NA19043.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0082 others(23): Show a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0008g0049 a0001c0004t0001g0093 a0001c0004t0002g0166	45	420	0.1071	8	c.44 others(19): Show c.4445_*4446insGAAAAAGA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3762		chr8	TogoVar
DUSP7_chr3_52043919_52061571	52056487	C C	CCCCGGCC others(1): Show CCCCGGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG03041.hp1 others(3): Show HG02622.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03834.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0011 a0001c0001t0006g0027 a0001c0001t0014g0028 a0001c0001t0006g0011 a0001c0001t0006g0027 a0001c0001t0014g0028	6	384	0.0156	8	c.-12 others(17): Show c.-129_-122dupAGGCCGGG	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding	1/3	122		chr3	TogoVar
DUSP8_chr11_1549051_1577271	1550890	C C	CCCACCCA others(1): Show CCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0001c0016 a0001c0027 a0004c0011 a0006c0014 a0008c0019 a0011c0020 a0013c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0038 a0001c0002t0001 a0001c0002t0008 a0001c0004t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0028 a0001c0016t0001 a0001c0027t0001 a0004c0011t0001 a0006c0014t0001 a0008c0019t0024 a0011c0020t0001 a0013c0017t0008	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0008g0015 a0001c0001t0009g0006 a0001c0001t0010g0070 a0001c0001t0010g0080 a0001c0001t0010g0115 a0001c0001t0011g0048 a0001c0001t0019g0088 a0001c0001t0020g0072 a0001c0001t0022g0081 a0001c0001t0023g0082 a0001c0001t0027g0083 a0001c0001t0029g0098 a0001c0001t0030g0084 a0001c0001t0033g0075 a0001c0001t0038g0085 a0001c0002t0001g0020 a0001c0002t0008g0033 a0001c0002t0008g0053 a0001c0004t0001g0022 a0001c0007t0001g0034 a0001c0010t0001g0094 a0001c0010t0028g0095 a0001c0016t0001g0089 a0001c0027t0001g0092 a0004c0011t0001g0071 a0006c0014t0001g0107 a0008c0019t0024g0099 a0011c0020t0001g0079 a0013c0017t0008g0078	153	367	0.4169	8	c.56 others(19): Show c.5627_*5628insATGGGTGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		3160		chr11	TogoVar
DUSP8_chr11_1549051_1577271	1550939	T T	TCCATCCA others(1): Show TCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(152): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0001c0016 a0001c0027 a0004c0011 a0006c0014 a0008c0019 a0011c0020 a0013c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0038 a0001c0002t0001 a0001c0002t0008 a0001c0004t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0028 a0001c0016t0001 a0001c0027t0001 a0004c0011t0001 a0006c0014t0001 a0008c0019t0024 a0011c0020t0001 a0013c0017t0008	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0008g0015 a0001c0001t0009g0006 a0001c0001t0010g0070 a0001c0001t0010g0080 a0001c0001t0010g0115 a0001c0001t0011g0048 a0001c0001t0019g0088 a0001c0001t0020g0072 a0001c0001t0022g0081 a0001c0001t0023g0082 a0001c0001t0027g0083 a0001c0001t0029g0098 a0001c0001t0030g0084 a0001c0001t0033g0075 a0001c0001t0038g0085 a0001c0002t0001g0020 a0001c0002t0008g0033 a0001c0002t0008g0053 a0001c0004t0001g0022 a0001c0007t0001g0034 a0001c0010t0001g0094 a0001c0010t0028g0095 a0001c0016t0001g0089 a0001c0027t0001g0092 a0004c0011t0001g0071 a0006c0014t0001g0107 a0008c0019t0024g0099 a0011c0020t0001g0079 a0013c0017t0008g0078	155	367	0.4223	8	c.55 others(19): Show c.5578_*5579insGTGGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		3111		chr11	TogoVar
DUXA_chr19_57149021_57172485	57155646	A A	AAGATAGA others(1): Show AAGATAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01243.hp1 others(7): Show HG00140.hp1 HG00738.hp2 HG01243.hp1 HG01978.hp2 HG02071.hp2 HG02922.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0173 a0001c0001t0001g0322 a0001c0001t0002g0044 others(7): Show a0001c0001t0001g0173 a0001c0001t0001g0322 a0001c0001t0002g0044 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0175 a0001c0001t0003g0123 a0001c0001t0003g0345 a0001c0001t0003g0346	10	446	0.0224	8	c.439 others(23): Show c.439-282_439-275dupATCTATCT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	4/5			chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01928.hp2 others(11): Show HG01099.hp1 HG01109.hp2 HG01928.hp2 HG02055.hp1 HG02451.hp1 HG02572.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 NA19043.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0003c0010	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0003c0010t0003	a0001c0002t0001g0015 a0001c0003t0001g0037 a0001c0003t0001g0109 others(5): Show a0001c0002t0001g0015 a0001c0003t0001g0037 a0001c0003t0001g0109 a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0005t0001g0110 a0001c0005t0001g0111 a0003c0010t0003g0108	14	406	0.0345	8	c.194 others(23): Show c.194+974_194+981dupTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DVL3_chr3_184150377_184178614	184153304	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(58): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02132.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02738.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG04228.hp2 NA18952.hp2 NA18955.hp1 NA18967.hp1 NA18970.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0009 a0001c0001 a0001c0011 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0011t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0018 a0001c0001t0007g0001 a0001c0001t0007g0033 a0001c0001t0009g0023 a0001c0001t0015g0001 a0001c0011t0001g0006 a0005c0009t0001g0001	61	400	0.1525	8	c.-23 others(19): Show c.-2332_-2331insAAAAAAAA	DVL3	ENSG00000161202.20	transcript	ENST00000313143.9	protein_coding		2072		chr3	TogoVar
DYM_chr18_49031387_49465645	49080150	C C	CGGGGGGG others(1): Show CGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01981.hp2 HG02132.hp2 others(13): Show HG00597.hp1 HG01981.hp2 HG02132.hp2 HG02523.hp1 HG03139.hp1 HG04199.hp2 NA18946.hp1 NA18947.hp2 NA18961.hp1 NA18964.hp2 NA18975.hp1 NA19012.hp1 NA19060.hp1 NA19063.hp1 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0053 a0001c0001t0003g0071 a0001c0001t0003g0074 others(13): Show a0001c0001t0003g0053 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0214 a0001c0001t0004g0267 a0001c0001t0005g0254 a0001c0001t0005g0265	16	290	0.0552	8	c.202 others(29): Show c.2025+17244_2025+17251dupCCCCCCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49085606	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00738.hp2 others(18): Show HG00099.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG02683.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03669.hp1 HG04204.hp1 HG04204.hp2 NA19043.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0016 a0001c0001t0022 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0022 a0001c0001t0030 a0001c0003t0009	a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 others(18): Show a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0152 a0001c0001t0004g0289 a0001c0001t0016g0125 a0001c0001t0016g0140 a0001c0001t0022g0182 a0001c0001t0022g0286 a0001c0001t0030g0127 a0001c0003t0009g0003	21	290	0.0724	8	c.202 others(29): Show c.2025+11788_2025+11795dupAAAAAAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49145108	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp2 HG02132.hp1 others(10): Show HG00597.hp2 HG01074.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG03688.hp2 HG03710.hp1 NA18948.hp2 NA18953.hp2 NA18961.hp2 NA18991.hp2 NA19007.hp1 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0032 a0003c0009t0002	a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0049 others(10): Show a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0002g0034 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0014 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013 a0003c0009t0002g0054	13	290	0.0448	8	c.172 others(29): Show c.1728+18569_1728+18576dupATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(1): Show TATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01952.hp1 HG02015.hp1 others(3): Show HG00408.hp1 HG01952.hp1 HG02015.hp1 HG03491.hp1 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0007t0002 a0001c0001t0002 a0001c0001t0003 a0001c0007t0002	a0001c0001t0002g0197 a0001c0001t0003g0084 a0001c0001t0003g0085 others(3): Show a0001c0001t0002g0197 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0210 a0001c0001t0003g0228 a0001c0007t0002g0098	6	290	0.0207	8	c.172 others(29): Show c.1728+18550_1728+18551insTTATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49195916	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02647.hp1 others(4): Show HG02257.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp2 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0007 a0001c0001t0037 a0001c0001t0038 others(1): Show a0001c0001t0007 a0001c0001t0037 a0001c0001t0038 a0006c0005t0039	a0001c0001t0007g0105 a0001c0001t0007g0107 a0001c0001t0007g0108 others(4): Show a0001c0001t0007g0105 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0120 a0001c0001t0037g0112 a0001c0001t0038g0109 a0006c0005t0039g0110	7	290	0.0241	8	c.162 others(29): Show c.1625+13627_1625+13634dupAAAAAAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01943.hp1 HG01952.hp2 others(18): Show HG00735.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02083.hp1 HG02523.hp2 HG02717.hp2 HG03579.hp2 HG03710.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18964.hp2 NA18982.hp1 NA18984.hp1 NA19004.hp1 NA19012.hp2 NA19030.hp1 NA19063.hp2 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 a0001c0001t0040 a0001c0002t0001 a0003c0009t0002	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0003g0053 a0001c0001t0034g0055 a0001c0001t0040g0230 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0246 a0003c0009t0002g0054	21	290	0.0724	8	c.146 others(27): Show c.1460+4786_1460+4793dupTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49254281	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02071.hp2 HG02523.hp2 others(5): Show HG01943.hp1 HG02071.hp2 HG02523.hp2 HG03710.hp1 NA18982.hp1 NA19003.hp2 NA19007.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0039 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069	8	290	0.0276	8	c.146 others(27): Show c.1460+2721_1460+2728dupATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49258821	C C	CACACACA others(1): Show CACACACAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18950.hp2 NA18955.hp1 others(5): Show HG01891.hp2 NA18950.hp2 NA18955.hp1 NA19004.hp2 NA19060.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089 others(5): Show a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0005g0276 a0001c0001t0010g0274	8	290	0.0276	8	c.125 others(25): Show c.1252-329_1252-328insCTGTGTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	11/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292355	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG02004.hp1 others(7): Show HG00642.hp1 HG00735.hp1 HG02004.hp1 HG02451.hp1 HG03139.hp2 HG03225.hp2 NA19004.hp2 NA19007.hp1 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0146 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0146 a0001c0001t0002g0279 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0097 a0001c0001t0005g0156 a0001c0001t0005g0268 a0001c0001t0005g0269	10	290	0.0345	8	c.764 others(25): Show c.764-5747_764-5740dupGTGTGTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49295072	A A	ATTAACAG others(1): Show ATTAACAGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00621.hp1 others(58): Show HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0010 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0034 a0001c0002t0001 a0001c0004t0001 a0002c0010t0023 a0003c0009t0002	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(58): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0003g0026 a0001c0001t0003g0053 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0033 a0001c0001t0014g0036 a0001c0001t0014g0063 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013 a0001c0001t0034g0055 a0001c0002t0001g0150 a0001c0004t0001g0035 a0002c0010t0023g0009 a0003c0009t0002g0054	61	290	0.2103	8	c.764 others(25): Show c.764-8457_764-8456insACTGTTAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317551	T T	TTGTCTCT others(1): Show TTGTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03490.hp2 NA19009.hp2 others(2): Show HG01192.hp2 HG03490.hp2 NA19009.hp2 NA19056.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0248 others(2): Show a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0248 a0001c0001t0012g0161 a0001c0001t0012g0211	5	290	0.0172	8	c.763 others(27): Show c.763+14312_763+14313insGAGAGACA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTTCC others(1): Show CTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01516.hp2 HG01517.hp1 others(7): Show HG00642.hp1 HG01516.hp2 HG01517.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036	a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0255 others(7): Show a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0005g0269 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0020g0239 a0001c0001t0035g0264 a0001c0001t0036g0148	10	290	0.0345	8	c.763 others(27): Show c.763+14210_763+14217dupAGGAAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49324138	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02027.hp1 HG02056.hp2 others(3): Show HG01361.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp2 NA18612.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0002g0113 a0001c0001t0002g0172 a0001c0001t0002g0206 others(3): Show a0001c0001t0002g0113 a0001c0001t0002g0172 a0001c0001t0002g0206 a0001c0001t0002g0232 a0001c0001t0003g0227 a0001c0001t0021g0225	6	290	0.0207	8	c.763 others(25): Show c.763+7718_763+7725dupTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49375193	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG02071.hp2 others(6): Show HG00621.hp1 HG01074.hp2 HG02071.hp2 HG03579.hp1 NA18994.hp1 NA19007.hp1 NA19012.hp2 NA19088.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0010t0023	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0002g0034 a0001c0001t0008g0033 a0002c0010t0023g0009	9	290	0.0310	8	c.421 others(25): Show c.421+3366_421+3373dupGTGTGTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	5/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49426755	A A	ACGTGTGT others(1): Show ACGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03831.hp2 NA18950.hp1 others(4): Show HG02155.hp1 HG03831.hp2 NA18950.hp1 NA18953.hp2 NA18959.hp1 NA18991.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0032 a0001c0001t0034	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0008g0019 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0008g0019 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013 a0001c0001t0034g0055	7	290	0.0241	8	c.140 others(25): Show c.140+3499_140+3500insCACACACG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101984401	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02451.hp2 HG02922.hp2 others(5): Show HG00733.hp1 HG02451.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0010 others(1): Show a0001c0007 a0001c0008 a0001c0010 a0001c0025	a0001c0007t0010 a0001c0008t0016 a0001c0008t0017 others(3): Show a0001c0007t0010 a0001c0008t0016 a0001c0008t0017 a0001c0010t0010 a0001c0010t0060 a0001c0025t0043	a0001c0007t0010g0270 a0001c0008t0016g0243 a0001c0008t0017g0241 others(5): Show a0001c0007t0010g0270 a0001c0008t0016g0243 a0001c0008t0017g0241 a0001c0010t0010g0165 a0001c0010t0010g0269 a0001c0010t0010g0274 a0001c0010t0060g0164 a0001c0025t0043g0245	8	280	0.0286	8	c.146 others(25): Show c.1461+816_1461+823dupGTGTGTGT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	7/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02647.hp1 HG02735.hp1 others(5): Show HG01081.hp2 HG02647.hp1 HG02735.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG06807.hp1 NA20129.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0024 a0002c0004t0004 a0002c0004t0024	a0002c0004t0004g0037 a0002c0004t0004g0040 a0002c0004t0004g0041 others(5): Show a0002c0004t0004g0037 a0002c0004t0004g0040 a0002c0004t0004g0041 a0002c0004t0004g0045 a0002c0004t0004g0046 a0002c0004t0004g0246 a0002c0004t0024g0038 a0002c0004t0024g0044	8	280	0.0286	8	c.130 others(27): Show c.13007-160_13007-153dupATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95785775	G G	GTATGTAT others(1): Show GTATGTATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19011.hp1 NA18943.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	230	0.0087	8	c.-10 others(27): Show c.-10+13005_-10+13006insGTATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95810711	T T	TAGTTTGG others(1): Show TAGTTTGGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19063.hp1 HG02056.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0198 a0001c0001t0001g0150 a0001c0001t0001g0198	2	230	0.0087	8	c.223 others(23): Show c.223+206_223+213dupAGTTTGGG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00741.hp1 others(22): Show HG00642.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02895.hp1 HG02965.hp2 HG03139.hp2 HG03453.hp2 HG03490.hp2 NA18747.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0002c0005t0001 a0003c0011t0001	a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0059 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0106 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0188 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0139 a0001c0003t0001g0037 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0135 a0001c0003t0001g0204 a0001c0004t0001g0054 a0001c0004t0001g0208 a0001c0007t0002g0174 a0002c0005t0001g0138 a0003c0011t0001g0171	25	230	0.1087	8	c.315 others(25): Show c.315-4085_315-4078dupATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95846621	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG02451.hp1 HG00323.hp2 HG00558.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0195 a0001c0002t0001g0172 a0001c0008t0001g0029 a0001c0001t0001g0195 a0001c0002t0001g0172 a0001c0008t0001g0029	3	230	0.0130	8	c.374 others(27): Show c.374+18506_374+18507insGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95846623	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18943.hp1 NA18988.hp1 others(3): Show HG01261.hp1 NA18943.hp1 NA18988.hp1 NA18993.hp1 NA19005.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0103 a0001c0001t0001g0199 a0001c0001t0001g0211 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0002t0001g0023 a0001c0002t0001g0168	6	230	0.0261	8	c.374 others(27): Show c.374+18508_374+18509insGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95846625	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02738.hp2 others(9): Show HG02055.hp2 HG02451.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp2 HG03239.hp2 HG03669.hp1 HG03834.hp1 HG06807.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0163 a0001c0001t0001g0179 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0163 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0220 a0001c0002t0001g0154 a0001c0002t0001g0181 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0202	12	230	0.0522	8	c.374 others(27): Show c.374+18510_374+18511insGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01192.hp2 others(4): Show HG00099.hp2 HG01070.hp2 HG01192.hp2 HG03017.hp1 NA18968.hp1 NA18994.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0109 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0149 a0001c0003t0001g0082	7	230	0.0304	8	c.491 others(27): Show c.491-40529_491-40522dupCACACACA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95968824	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01074.hp1 others(4): Show HG00140.hp1 HG01070.hp2 HG01074.hp1 HG01261.hp1 HG02738.hp1 HG03017.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0149 a0001c0001t0001g0199 a0001c0001t0001g0219	7	230	0.0304	8	c.491 others(25): Show c.491-8648_491-8641dupGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95986023	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02896.hp2 others(6): Show HG02257.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2 NA18943.hp2 NA19030.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0005 others(2): Show a0001c0001 a0001c0003 a0002c0005 a0002c0010 a0003c0011	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0002c0010t0001 a0003c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0067 a0001c0001t0001g0212 a0001c0003t0001g0033 a0001c0003t0001g0034 a0002c0005t0001g0138 a0002c0010t0001g0042 a0003c0011t0001g0171	9	230	0.0391	8	c.744 others(24): Show c.744-1000_744-993dupGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95995249	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(91): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18955.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0002c0005t0001 a0003c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 others(91): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0062 a0001c0001t0002g0079 a0001c0001t0002g0099 a0001c0001t0002g0115 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0061 a0001c0002t0001g0076 a0001c0002t0001g0095 a0001c0002t0001g0100 a0001c0002t0001g0129 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0152 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0003t0001g0002 a0001c0003t0001g0015 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0048 a0001c0003t0001g0185 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0213 a0001c0003t0001g0230 a0001c0003t0002g0001 a0001c0004t0001g0007 a0001c0004t0001g0075 a0001c0004t0001g0101 a0001c0004t0001g0133 a0001c0004t0001g0208 a0002c0005t0001g0035 a0003c0011t0001g0171	94	230	0.4087	8	c.844 others(23): Show c.844-668_844-661dupATAAATAA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95997583	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01106.hp1 others(15): Show HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01243.hp1 HG02055.hp2 HG02451.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03471.hp2 HG03579.hp1 HG03688.hp1 NA18971.hp1 NA19004.hp1 NA19043.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0009t0001 a0002c0005t0001	a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0126 others(15): Show a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0099 a0001c0001t0004g0191 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0037 a0001c0009t0001g0227 a0002c0005t0001g0035	18	230	0.0783	8	c.969 others(25): Show c.969+1544_969+1551dupGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96030330	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03942.hp1 HG03139.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0177 a0001c0001t0001g0153 a0001c0001t0001g0177	2	230	0.0087	8	c.111 others(27): Show c.1116+2049_1116+2056dupGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96061712	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03540.hp2 NA18943.hp1 HG02622.hp1 HG03540.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0063 a0001c0001t0001g0211 a0001c0003t0001g0134 a0001c0001t0001g0063 a0001c0001t0001g0211 a0001c0003t0001g0134	3	230	0.0130	8	c.151 others(29): Show c.1510-14329_1510-14322dupACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96077239	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02559.hp1 HG03927.hp2 others(1): Show HG01358.hp2 HG02559.hp1 HG03927.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0127 a0001c0001t0001g0211 a0001c0001t0001g0221 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0003t0001g0185	4	230	0.0174	8	c.165 others(27): Show c.1650+1073_1650+1080dupTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TTGTGTGT others(1): Show TTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01934.hp2 HG02055.hp1 others(12): Show HG01884.hp1 HG01934.hp2 HG02055.hp1 HG02074.hp2 HG02258.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03209.hp1 HG03942.hp1 NA18968.hp2 NA19066.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0043 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0002t0001g0027 a0001c0002t0001g0070 a0001c0002t0001g0145 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0084 a0001c0003t0001g0228	15	230	0.0652	8	c.30 others(19): Show c.3057_*3058insTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC1I2_chr2_171682469_171755158	171699591	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG03579.hp2 others(9): Show HG00408.hp1 HG00621.hp1 HG03579.hp2 NA18940.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18982.hp2 NA18983.hp1 NA19007.hp2 NA19058.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0023 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0088	12	334	0.0359	8	c.226 others(25): Show c.226+6733_226+6740dupTGTGTGTG	DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr2	TogoVar

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