Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DSC3_chr18_30984365_31047742	31001089	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	234	0.0043	30	c.223 others(47): Show c.2235+528_2235+529insTATATATATATATATATATATATATATA CA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	14/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0140 a0001c0007t0002g0140	1	15	0.0667	30	c.511 others(49): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117694078	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0147 a0001c0016t0002g0147	1	128	0.0078	30	c.511 others(49): Show c.511+82712_511+82713insGTATATATATATATATATATATATAT ATAT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0336 a0001c0010t0001g0336	1	69	0.0145	30	c.171 others(47): Show c.171-1621_171-1592dupACACACACACACACACACACACACACAC AC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554125	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0327 a0001c0004t0001g0327	1	347	0.0029	30	c.171 others(47): Show c.171-1592_171-1591insACACACACACACACACACACACACACAC CC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DST_chr6_56452996_56959830	56593516	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG03195.hp2 others(1): Show HG02622.hp2 HG03098.hp2 HG03195.hp2 NA18522.hp1	a0005 a0036 a0005 a0036	a0005c0004 a0036c0011 a0005c0004 a0036c0011	a0005c0004t0001 a0036c0011t0001 a0005c0004t0001 a0036c0011t0001	a0005c0004t0001g0024 a0005c0004t0001g0026 a0005c0004t0001g0031 others(1): Show a0005c0004t0001g0024 a0005c0004t0001g0026 a0005c0004t0001g0031 a0036c0011t0001g0075	4	35	0.1143	30	c.127 others(49): Show c.12726+146_12726+147insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	48/103			chr6	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0039 a0039	a0039c0012 a0039c0012	a0039c0012t0001 a0039c0012t0001	a0039c0012t0001g0061 a0039c0012t0001g0061	1	43	0.0233	30	c.121 others(49): Show c.1215-3343_1215-3342insTATATATATATATATATATATATATA TATA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103			chr6	TogoVar
DST_chr6_56452996_56959830	56812109	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0081 a0004c0003t0004g0081	1	15	0.0667	30	c.625 others(49): Show c.625+39258_625+39287dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DST_chr6_56452996_56959830	56908096	T T	TGTGTGTG others(23): Show TGTGTGTGTGTATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0003 a0003c0006t0001g0003	1	77	0.0130	30	c.217 others(47): Show c.217-7476_217-7475insGTGTGTGTATATATATATATACACACAC AC	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DTWD1_chr15_49616048_49661232	49633043	C C	CTATCTAT others(23): Show CTATCTATCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0004 a0001c0001t0030g0004	1	261	0.0038	30	c.408 others(45): Show c.408+744_408+745insCTATCTATATATATATATATATATATATAT	DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD2_chr5_118831074_118993547	118945774	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 HG02258.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0008 a0001c0001t0003g0015	2	48	0.0417	30	c.219 others(47): Show c.219-1126_219-1125insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76457166	T T	TCTTTGCT others(23): Show TCTTTGCTCAACACCACTCCCCATTTTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(135): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19068.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0013	a0001c0003 a0001c0013 a0001c0031 others(19): Show a0001c0003 a0001c0013 a0001c0031 a0002c0002 a0002c0007 a0002c0008 a0002c0011 a0002c0017 a0002c0028 a0002c0029 a0002c0032 a0003c0004 a0004c0025 a0004c0026 a0004c0027 a0004c0033 a0005c0006 a0005c0024 a0007c0012 a0010c0016 a0011c0030 a0013c0015	a0001c0003t0001 a0001c0013t0001 a0001c0031t0001 others(22): Show a0001c0003t0001 a0001c0013t0001 a0001c0031t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0007t0001 a0002c0008t0001 a0002c0008t0004 a0002c0011t0003 a0002c0017t0001 a0002c0028t0001 a0002c0029t0001 a0002c0032t0001 a0003c0004t0001 a0004c0025t0001 a0004c0026t0001 a0004c0027t0001 a0004c0033t0001 a0005c0006t0001 a0005c0024t0001 a0007c0012t0001 a0010c0016t0001 a0011c0030t0003 a0013c0015t0001	a0001c0003t0001g0116 a0001c0003t0001g0128 a0001c0003t0001g0129 others(134): Show a0001c0003t0001g0116 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0013t0001g0193 a0001c0031t0001g0273 a0002c0002t0001g0004 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0005g0274 a0002c0002t0007g0203 a0002c0007t0001g0185 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0268 a0002c0007t0001g0270 a0002c0007t0001g0271 a0002c0007t0001g0272 a0002c0007t0001g0275 a0002c0007t0001g0276 a0002c0008t0001g0229 a0002c0008t0001g0230 a0002c0008t0004g0132 a0002c0008t0004g0133 a0002c0008t0004g0134 a0002c0011t0003g0264 a0002c0011t0003g0265 a0002c0017t0001g0188 a0002c0028t0001g0258 a0002c0029t0001g0005 a0002c0032t0001g0256 a0003c0004t0001g0189 a0003c0004t0001g0235 a0003c0004t0001g0236 a0003c0004t0001g0237 a0003c0004t0001g0238 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0241 a0003c0004t0001g0242 a0003c0004t0001g0243 a0003c0004t0001g0244 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0257 a0003c0004t0001g0261 a0003c0004t0001g0262 a0004c0025t0001g0143 a0004c0026t0001g0269 a0004c0027t0001g0139 a0004c0033t0001g0234 a0005c0006t0001g0115 a0005c0006t0001g0117 a0005c0006t0001g0118 a0005c0006t0001g0119 a0005c0006t0001g0120 a0005c0006t0001g0121 a0005c0006t0001g0122 a0005c0006t0001g0123 a0005c0006t0001g0124 a0005c0024t0001g0159 a0007c0012t0001g0233 a0007c0012t0001g0245 a0010c0016t0001g0227 a0011c0030t0003g0263 a0013c0015t0001g0191	138	278	0.4964	30	c.-49 others(41): Show c.-4925_-4924insCTTTGCTCAACACCACTCCCCATTTTGTGG	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding		4542		chr7	TogoVar
DTX2_chr7_76456709_76510991	76486846	G G	GGCGGCGG others(23): Show GGCGGCGGCTGCTGCTGCTGCTGCTGCTGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01884.hp1 others(4): Show HG01109.hp1 HG01243.hp1 HG01884.hp1 HG02258.hp2 HG02965.hp2 NA18522.hp2 NA20129.hp2	a0005 a0005	a0005c0006 a0005c0024 a0005c0006 a0005c0024	a0005c0006t0001 a0005c0024t0001 a0005c0006t0001 a0005c0024t0001	a0005c0006t0001g0119 a0005c0006t0001g0120 a0005c0006t0001g0121 others(4): Show a0005c0006t0001g0119 a0005c0006t0001g0120 a0005c0006t0001g0121 a0005c0006t0001g0122 a0005c0006t0001g0123 a0005c0006t0001g0124 a0005c0024t0001g0159	7	214	0.0327	30	c.908 others(47): Show c.908+3701_908+3702insGGCGGCTGCTGCTGCTGCTGCTGCTGCT GC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(23): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01099.hp1 others(9): Show HG00140.hp2 HG00639.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01358.hp2 HG03490.hp2 HG03579.hp1 HG04199.hp1 NA18906.hp1 NA18906.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0003c0005 a0007c0012 a0003c0004 a0003c0005 a0007c0012	a0003c0004t0001 a0003c0005t0001 a0007c0012t0001 a0003c0004t0001 a0003c0005t0001 a0007c0012t0001	a0003c0004t0001g0236 a0003c0004t0001g0239 a0003c0004t0001g0240 others(9): Show a0003c0004t0001g0236 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0242 a0003c0004t0001g0243 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0004t0001g0253 a0003c0004t0001g0262 a0003c0005t0001g0066 a0007c0012t0001g0233 a0007c0012t0001g0245	12	185	0.0649	30	c.908 others(47): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTGCTTTT GC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUS2_chr16_68018284_68084320	68020853	A A	ATATATAT others(23): Show ATATATATATATATATATATATACGTATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG04184.hp1 HG02976.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0184 a0001c0001t0001g0095 a0001c0001t0001g0184	2	186	0.0108	30	c.-25 others(41): Show c.-2597_-2596insTATATATATATATATATATATACGTATGTG	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2430		chr16	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CATATATA others(23): Show CATATATATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	344	0.0029	30	c.-18 others(49): Show c.-180-1559_-180-1558insGTATATATATATATATATATATATAT ATAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02615.hp2 HG02683.hp2 others(4): Show HG01255.hp1 HG02615.hp2 HG02683.hp2 HG03540.hp2 NA18993.hp2 NA19064.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0327 others(4): Show a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0327 a0001c0001t0006g0074 a0001c0001t0006g0081 a0001c0001t0008g0280 a0001c0001t0022g0339	7	193	0.0363	30	c.-36 others(49): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP26_chr8_33586330_33605023	33587514	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTCTTTTCTTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	418	0.0024	30	c.44 others(41): Show c.4498_*4499insGAAGAAGAAAGAAAAGAAAGAAAGAAAGAA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3815		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp2 HG03195.hp2 others(2): Show HG01433.hp1 HG02280.hp2 HG03195.hp2 NA18956.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0134	5	137	0.0365	30	c.-76 others(45): Show c.-76-292_-76-291insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUSP26_chr8_33586330_33605023	33604590	G G	GCATGAAT others(23): Show GCATGAATCATTCTCAAGCGACTCTCCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	30	c.-50 others(41): Show c.-5003_-5002insGCCAGGAGAGTCGCTTGAGAATGATTCATG	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		4568		chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	192	0.0052	30	c.-78 others(39): Show c.-784_-783insATATATATATATATATATATATATTTTTTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUXA_chr19_57149021_57172485	57172002	C C	CGAGGGGG others(23): Show CGAGGGGGGGCGGGGGGCCGCGAGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	358	0.0028	30	c.-45 others(41): Show c.-4560_-4559insCGCCCCCCTCGCGGCCCCCCGCCCCCCCTC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4518		chr19	TogoVar
DVL1_chr1_1330278_1354418	1350986	G G	GGAGGGGG others(23): Show GGAGGGGGCCGCAGGAGCGACGGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	339	0.0029	30	c.-19 others(41): Show c.-1922_-1921insACTCCCCCCCGTCGCTCCTGCGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1569		chr1	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18992.hp2 HG00741.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0006 a0001c0001t0002 a0002c0006t0006	a0001c0001t0002g0165 a0002c0006t0006g0157 a0001c0001t0002g0165 a0002c0006t0006g0157	2	107	0.0187	30	c.172 others(51): Show c.1728+18550_1728+18551insTTATATATATATATATATATATAT ATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49195916	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03688.hp1 HG03831.hp1 HG02071.hp1 HG03688.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0002 a0001c0003t0009g0005 a0001c0003t0009g0006 a0001c0003t0009g0002 a0001c0003t0009g0005 a0001c0003t0009g0006	3	60	0.0500	30	c.162 others(51): Show c.1625+13634_1625+13635insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49205996	T T	TTTTTTTG others(23): Show TTTTTTTGTTTTTTTTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp1 HG00738.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0240 a0001c0001t0011g0241	2	288	0.0069	30	c.162 others(49): Show c.1625+3554_1625+3555insCAAACAAACAAAAAAAAAAAAAACAA AAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440498	T T	TATGACTA others(23): Show TATGACTATATATTATATATTTATATAATAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19063.hp1 NA19079.hp2 NA19004.hp2 NA19063.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0079	3	287	0.0105	30	c.-53 others(49): Show c.-53-10052_-53-10051insGTATTATATAAATATATAATATATAG TCAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440528	T T	TATGACTA others(23): Show TATGACTATATATTATATATTTATATAATAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19060.hp1 NA19068.hp2 NA18947.hp2 NA19060.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0100 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0100	3	288	0.0104	30	c.-53 others(49): Show c.-53-10082_-53-10081insGTATTATATAAATATATAATATATAG TCAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49441018	T T	TATATATT others(23): Show TATATATTTATATATAATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA20129.hp1 HG00408.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0175 a0001c0001t0002g0181	2	288	0.0069	30	c.-53 others(49): Show c.-53-10601_-53-10572dupTATATATTTATATATTATATATAAAT ATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTACATAT others(23): Show GTACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0023 a0006c0019t0023	a0006c0019t0023g0262 a0006c0019t0023g0262	1	107	0.0093	30	c.130 others(49): Show c.13007-174_13007-173insCATATATATATATATATATATATATA TATA	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18952.hp2 NA18956.hp2 others(5): Show NA18939.hp2 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18965.hp2 NA18993.hp1 NA19000.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0178 others(5): Show a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0036g0197	8	114	0.0702	30	c.130 others(49): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT ATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG03471.hp1 HG00597.hp2 HG01099.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0201 a0001c0001t0003g0204 a0001c0001t0003g0228 a0001c0001t0002g0201 a0001c0001t0003g0204 a0001c0001t0003g0228	3	109	0.0275	30	c.130 others(49): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT ATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp1 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0037 a0001c0018t0005 a0001c0018t0037	a0001c0018t0005g0235 a0001c0018t0037g0234 a0001c0018t0005g0235 a0001c0018t0037g0234	2	108	0.0185	30	c.130 others(49): Show c.13007-175_13007-174insGTGTGTGTGTATATATATATATATAT ATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00639.hp1 others(8): Show HG00099.hp2 HG00438.hp2 HG00639.hp1 HG01106.hp2 HG01884.hp1 HG02071.hp2 HG02258.hp2 HG02809.hp1 HG03195.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0083 others(8): Show a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0215 a0001c0002t0001g0070 a0001c0004t0001g0072	11	53	0.2075	30	c.315 others(47): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT AT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	75	0.0133	30	c.30 others(41): Show c.3057_*3058insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532485	G G	GTATGTGT others(23): Show GTATGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0034 a0001c0001t0013g0034	1	269	0.0037	30	c.108 others(47): Show c.1080+500_1080+501insTATATATATATATATACACACACACACA TA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103453615	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0255 a0002c0016t0002g0255	1	76	0.0132	30	c.124 others(51): Show c.12457-1544_12457-1543insTATATATATATATATATATATATA TATATA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158858946	C C	CCCTCCCC others(23): Show CCCTCCCCTCCCCTTTCCTCCCCTCCCCTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0259 a0003c0003t0007g0259	1	240	0.0042	30	c.15+ others(45): Show c.15+2209_15+2238dupTTTCCTCCCCTCCCCTTTCCTCCCCTCCCC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128650526	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0289 a0001c0005t0001g0289	1	284	0.0035	30	c.186 others(47): Show c.186+6014_186+6015insATATATATATATATATATATATATATAT AT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18961.hp1 HG02080.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	343	0.0058	30	c.77 others(39): Show c.775_*776insTATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196308931	C C	CCATATCA others(23): Show CCATATCAGAGCAATTAAAAATCCCCCACAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	327	0.0031	30	c.248 others(47): Show c.248-1949_248-1920dupATGTGGGGGATTTTTAATTGCTCTGATA TG	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	2/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp2 others(70): Show HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02738.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18985.hp2 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19079.hp1 NA19085.hp1 NA19089.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(50): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0129 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0002g0216	73	278	0.2626	30	c.113 others(45): Show c.113+650_113+651insCCACACACACACCACACAACACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417506	C C	CTTTTCTT others(23): Show CTTTTCTTTTTCTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	272	0.0037	30	c.-76 others(47): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTTTTTCTTT TT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	66	0.0152	30	c.10+ others(47): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(23): Show GTTTTTGTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	123	0.0081	30	c.301 others(47): Show c.301-1021_301-1020insGTTTTTGTTTTTTTTTTTTTTTTTTTTT TT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01081.hp1 others(10): Show HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01243.hp2 HG02080.hp1 HG02559.hp1 HG02818.hp1 HG02970.hp2 HG03453.hp2 HG03516.hp2 NA18981.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 others(4): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0077 a0001c0001t0137 a0001c0001t0172 a0001c0002t0028	a0001c0001t0020g0193 a0001c0001t0020g0197 a0001c0001t0020g0228 others(10): Show a0001c0001t0020g0193 a0001c0001t0020g0197 a0001c0001t0020g0228 a0001c0001t0021g0241 a0001c0001t0021g0243 a0001c0001t0021g0244 a0001c0001t0027g0329 a0001c0001t0027g0341 a0001c0001t0077g0340 a0001c0001t0137g0245 a0001c0001t0172g0242 a0001c0002t0028g0326 a0001c0002t0028g0327	13	228	0.0570	30	c.72 others(41): Show c.7216_*7217insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7217	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(23): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 NA19009.hp1 HG01243.hp2 HG03453.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0029 a0001c0001 a0001c0002 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0029t0001 a0001c0001t0001 a0001c0002t0001 a0001c0029t0001	a0001c0001t0001g0076 a0001c0002t0001g0239 a0001c0029t0001g0345 a0001c0001t0001g0076 a0001c0002t0001g0239 a0001c0029t0001g0345	3	271	0.0111	30	c.132 others(47): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71560417	G G	GCCCCAGC others(23): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02165.hp1 others(13): Show HG01099.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02630.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 NA18906.hp2 NA20129.hp1 NA20805.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0014 a0019 a0027	a0001c0004 a0001c0005 a0001c0018 others(10): Show a0001c0004 a0001c0005 a0001c0018 a0001c0019 a0001c0031 a0001c0034 a0001c0047 a0001c0073 a0003c0082 a0004c0008 a0014c0059 a0019c0033 a0027c0028	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(12): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0018t0001 a0001c0019t0002 a0001c0031t0001 a0001c0034t0001 a0001c0047t0002 a0001c0073t0001 a0003c0082t0003 a0004c0008t0001 a0014c0059t0001 a0019c0033t0001 a0027c0028t0004	a0001c0004t0001g0149 a0001c0004t0002g0024 a0001c0004t0003g0065 others(13): Show a0001c0004t0001g0149 a0001c0004t0002g0024 a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0005t0001g0056 a0001c0018t0001g0004 a0001c0019t0002g0165 a0001c0031t0001g0186 a0001c0034t0001g0092 a0001c0047t0002g0183 a0001c0073t0001g0005 a0003c0082t0003g0185 a0004c0008t0001g0032 a0014c0059t0001g0093 a0019c0033t0001g0064 a0027c0028t0004g0047	16	98	0.1633	30	c.216 others(49): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71560421	C C	CAGCACAG others(23): Show CAGCACAGGGCTCCGGCCCAGGCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG03041.hp1 others(4): Show HG02615.hp2 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0007 a0001c0019 a0003c0062 others(1): Show a0001c0007 a0001c0019 a0003c0062 a0005c0060	a0001c0007t0001 a0001c0007t0002 a0001c0019t0001 others(2): Show a0001c0007t0001 a0001c0007t0002 a0001c0019t0001 a0003c0062t0001 a0005c0060t0002	a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0015 others(4): Show a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0015 a0001c0007t0002g0142 a0001c0019t0001g0044 a0003c0062t0001g0102 a0005c0060t0002g0143	7	190	0.0368	30	c.216 others(49): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54			chr2	TogoVar
DYSF_chr2_71461699_71691763	71560417	G G	GCCCCAGC others(23): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp2 HG02109.hp1 others(17): Show HG01099.hp1 HG01261.hp2 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp1 NA18906.hp1 NA20129.hp2 NA20805.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0015 a0020 a0021 a0029	a0001c0004 a0001c0005 a0001c0019 others(13): Show a0001c0004 a0001c0005 a0001c0019 a0001c0032 a0001c0037 a0001c0048 a0001c0060 a0001c0074 a0001c0078 a0003c0088 a0004c0011 a0005c0034 a0015c0062 a0020c0036 a0021c0059 a0029c0029	a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 others(14): Show a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0019t0002 a0001c0032t0002 a0001c0037t0001 a0001c0048t0002 a0001c0060t0001 a0001c0074t0001 a0001c0078t0001 a0003c0088t0006 a0004c0011t0001 a0005c0034t0002 a0015c0062t0001 a0020c0036t0001 a0021c0059t0005 a0029c0029t0005	a0001c0004t0001g0032 a0001c0004t0003g0112 a0001c0004t0003g0113 others(17): Show a0001c0004t0001g0032 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0005t0001g0062 a0001c0005t0001g0089 a0001c0019t0002g0171 a0001c0032t0002g0193 a0001c0037t0001g0044 a0001c0048t0002g0190 a0001c0060t0001g0197 a0001c0074t0001g0094 a0001c0078t0001g0199 a0003c0088t0006g0192 a0004c0011t0001g0084 a0005c0034t0002g0153 a0015c0062t0001g0045 a0020c0036t0001g0116 a0021c0059t0005g0118 a0029c0029t0005g0083	20	104	0.1923	30	c.221 others(49): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55		INFO_REALIGN_3_PRIME	chr2	TogoVar

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