Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
DNAH14_chr1_224924675_225404286	225078840	CTCCCTCT others(22): Show CTCCCTCTCTCTCTCTCTCCCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0018 a0018	a0018c0012 a0018c0012	a0018c0012t0001 a0018c0012t0001	a0018c0012t0001g0002 a0018c0012t0001g0002	1	238	0.0042	-29	c.242 others(46): Show c.2425-366_2425-338delTCCCTCTCTCTCTCTCTCCCTCTCTCTC T	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85			chr1	TogoVar
DNAH17_chr17_78418697_78582396	78540955	ATGAGTGG others(22): Show ATGAGTGGATGGGTGGATGGGTGGGTGGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00733.hp2 others(17): Show HG00408.hp2 HG00423.hp1 HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01243.hp1 HG01261.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02738.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 NA18959.hp1 NA20129.hp1 NA20300.hp2	a0001 a0006 a0011 others(14): Show a0001 a0006 a0011 a0015 a0027 a0033 a0034 a0035 a0044 a0047 a0062 a0064 a0108 a0113 a0115 a0135 a0138	a0001c0001 a0006c0004 a0006c0150 others(16): Show a0001c0001 a0006c0004 a0006c0150 a0006c0151 a0011c0013 a0015c0162 a0027c0148 a0033c0041 a0034c0184 a0035c0030 a0044c0155 a0047c0152 a0062c0192 a0064c0157 a0108c0224 a0113c0149 a0115c0154 a0135c0156 a0138c0190	a0001c0001t0001 a0006c0004t0001 a0006c0150t0001 others(16): Show a0001c0001t0001 a0006c0004t0001 a0006c0150t0001 a0006c0151t0001 a0011c0013t0001 a0015c0162t0002 a0027c0148t0001 a0033c0041t0001 a0034c0184t0003 a0035c0030t0001 a0044c0155t0002 a0047c0152t0001 a0062c0192t0001 a0064c0157t0002 a0108c0224t0001 a0113c0149t0001 a0115c0154t0001 a0135c0156t0002 a0138c0190t0001	a0001c0001t0001g0058 a0006c0004t0001g0185 a0006c0150t0001g0050 others(17): Show a0001c0001t0001g0058 a0006c0004t0001g0185 a0006c0150t0001g0050 a0006c0151t0001g0213 a0011c0013t0001g0168 a0011c0013t0001g0184 a0015c0162t0002g0033 a0027c0148t0001g0096 a0033c0041t0001g0009 a0034c0184t0003g0252 a0035c0030t0001g0054 a0044c0155t0002g0029 a0047c0152t0001g0030 a0062c0192t0001g0061 a0064c0157t0002g0062 a0108c0224t0001g0120 a0113c0149t0001g0217 a0115c0154t0001g0087 a0135c0156t0002g0161 a0138c0190t0001g0204	20	231	0.0866	-29	c.253 others(48): Show c.2533-1104_2533-1076delCGCCACCCACCCATCCACCCATCCAC TCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH6_chr2_84511498_84824589	84553360	TTTTCTTT others(22): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01952.hp2 HG02630.hp1 others(1): Show HG01361.hp1 HG01952.hp2 HG02630.hp1 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0020 a0001c0022 others(1): Show a0001c0001 a0001c0020 a0001c0022 a0003c0002	a0001c0001t0001 a0001c0020t0001 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0020t0001 a0001c0022t0001 a0003c0002t0001	a0001c0001t0001g0045 a0001c0020t0001g0031 a0001c0022t0001g0002 others(1): Show a0001c0001t0001g0045 a0001c0020t0001g0031 a0001c0022t0001g0002 a0003c0002t0001g0003	4	34	0.1176	-29	c.160 others(46): Show c.1602+334_1602+362delTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	10/76		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH8_chr6_38710311_39035792	38752610	TCCCAGAG others(22): Show TCCCAGAGGCAGGGAGAAGGAAAGAGGTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01169.hp2 others(33): Show HG00099.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03831.hp1 NA18939.hp1 NA18957.hp1 NA19030.hp2 NA19043.hp1 NA19067.hp1 NA20300.hp2 NA20905.hp2	a0001 a0003 a0004 others(12): Show a0001 a0003 a0004 a0009 a0012 a0013 a0015 a0016 a0037 a0044 a0045 a0051 a0055 a0059 a0072	a0001c0129 a0003c0089 a0004c0002 others(17): Show a0001c0129 a0003c0089 a0004c0002 a0004c0017 a0004c0047 a0004c0050 a0004c0051 a0009c0127 a0012c0126 a0013c0014 a0015c0044 a0015c0123 a0016c0125 a0037c0049 a0044c0122 a0045c0048 a0051c0128 a0055c0124 a0059c0083 a0072c0133	a0001c0129t0001 a0003c0089t0002 a0004c0002t0001 others(17): Show a0001c0129t0001 a0003c0089t0002 a0004c0002t0001 a0004c0017t0001 a0004c0047t0001 a0004c0050t0001 a0004c0051t0002 a0009c0127t0001 a0012c0126t0001 a0013c0014t0001 a0015c0044t0001 a0015c0123t0001 a0016c0125t0001 a0037c0049t0001 a0044c0122t0001 a0045c0048t0001 a0051c0128t0001 a0055c0124t0001 a0059c0083t0001 a0072c0133t0001	a0001c0129t0001g0216 a0003c0089t0002g0101 a0004c0002t0001g0037 others(33): Show a0001c0129t0001g0216 a0003c0089t0002g0101 a0004c0002t0001g0037 a0004c0002t0001g0038 a0004c0002t0001g0043 a0004c0002t0001g0054 a0004c0002t0001g0073 a0004c0002t0001g0112 a0004c0002t0001g0113 a0004c0002t0001g0117 a0004c0002t0001g0156 a0004c0002t0001g0185 a0004c0002t0001g0186 a0004c0002t0001g0199 a0004c0017t0001g0059 a0004c0017t0001g0116 a0004c0017t0001g0124 a0004c0047t0001g0261 a0004c0050t0001g0114 a0004c0051t0002g0041 a0009c0127t0001g0146 a0012c0126t0001g0222 a0013c0014t0001g0115 a0013c0014t0001g0193 a0013c0014t0001g0269 a0015c0044t0001g0021 a0015c0044t0001g0268 a0015c0123t0001g0023 a0016c0125t0001g0255 a0037c0049t0001g0183 a0044c0122t0001g0224 a0045c0048t0001g0184 a0051c0128t0001g0264 a0055c0124t0001g0145 a0059c0083t0001g0026 a0072c0133t0001g0170	36	284	0.1268	-29	c.140 others(48): Show c.1407+2022_1407+2050delCCCAGAGGCAGGGAGAAGGAAAGAGG TTA	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	9/92			chr6	TogoVar
DNAH8_chr6_38710311_39035792	38874094	TTCTCTTT others(22): Show TTCTCTTTCTCCTTCCTTCCTTCCTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0015 a0015	a0015c0123 a0015c0123	a0015c0123t0001 a0015c0123t0001	a0015c0123t0001g0023 a0015c0123t0001g0023	1	280	0.0036	-29	c.762 others(46): Show c.7620+728_7620+756delCCTTCCTTCCTTCCTCCTTCTCTCTTTC T	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	52/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH9_chr17_11593470_11974748	11805523	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp2 HG01261.hp2 HG01934.hp2	a0005 a0007 a0005 a0007	a0005c0004 a0007c0016 a0005c0004 a0007c0016	a0005c0004t0001 a0007c0016t0001 a0005c0004t0001 a0007c0016t0001	a0005c0004t0001g0025 a0007c0016t0001g0173 a0005c0004t0001g0025 a0007c0016t0001g0173	2	3	0.6667	-29	c.842 others(48): Show c.8421-2195_8421-2167delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	43/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74276072	TCCCAGTC others(22): Show TCCCAGTCTCCCACGCTGACACTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0185 a0003c0004t0001g0185	1	396	0.0025	-29	c.-12 others(46): Show c.-12+1732_-12+1760delGTCTCCCACGCTGACACTCCTCCTCCCC A	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI3_chr1_85057327_85138138	85129452	TATTCTAT others(22): Show TATTCTATGCCTACACTCGAAGCCCTCCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(195): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0005c0009 a0006c0010 a0007c0012	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0005c0009t0001 a0006c0010t0001 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(192): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0005t0001g0049 a0001c0005t0001g0081 a0001c0005t0001g0144 a0001c0005t0001g0311 a0001c0005t0001g0323 a0001c0005t0001g0325 a0001c0007t0001g0071 a0001c0007t0001g0252 a0001c0007t0001g0279 a0001c0008t0001g0052 a0005c0009t0001g0157 a0006c0010t0001g0057 a0007c0012t0001g0253	198	372	0.5323	-29	c.241 others(46): Show c.2410-537_2410-509delATTCTATGCCTACACTCGAAGCCCTCCA G	DNAI3	ENSG00000162643.13	transcript	ENST00000294664.11	protein_coding	21/22			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66845190	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAGAAAAATTAA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19067.hp2 NA18992.hp2 NA19067.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0006 a0003c0005 a0004c0006	a0003c0005t0001 a0004c0006t0001 a0003c0005t0001 a0004c0006t0001	a0003c0005t0001g0230 a0004c0006t0001g0263 a0003c0005t0001g0230 a0004c0006t0001g0263	2	119	0.0168	-29	c.129 others(48): Show c.1291+2265_1291+2293delTTAATTTTTCTTTTTTTTTTTTTTTT TTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	8/16			chr1	TogoVar
DNAJB12_chr10_72327863_72359919	72356862	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	290	0.0034	-29	c.-19 others(40): Show c.-1994_-1966delATATATATATATATATATATATATATATA	DNAJB12	ENSG00000148719.16	transcript	ENST00000444643.8	protein_coding		1944		chr10	TogoVar
DNAJB13_chr11_73946026_73975281	73973640	CCCCTGTG others(22): Show CCCCTGTGCAGCCAAGGCCCTGGCTTCTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02486.hp2 others(5): Show HG01884.hp2 HG02280.hp1 HG02486.hp2 HG02886.hp1 HG02895.hp2 HG03130.hp2 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0001g0234 a0001c0001t0001g0239 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0275 a0001c0001t0001g0294 a0001c0001t0004g0064	8	434	0.0184	-29	c.35 others(40): Show c.3527_*3555delCCCTGTGCAGCCAAGGCCCTGGCTTCTTG	DNAJB13	ENSG00000187726.9	transcript	ENST00000339764.6	protein_coding		3360		chr11	TogoVar
DNAJC22_chr12_49341888_49358690	49343737	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0034 a0001c0001t0031g0034	1	58	0.0172	-29	c.-43 others(40): Show c.-4383_-4355delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAJC22	ENSG00000178401.16	transcript	ENST00000549441.7	protein_coding		3150		chr12	TogoVar
DNER_chr2_229352629_229719555	229369248	AAAAAAAA others(22): Show AAAAAAAAAGTTTTAACTTTCTAAAAAGTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp1 HG01074.hp1 others(10): Show HG00140.hp2 HG01071.hp1 HG01074.hp1 HG01516.hp1 HG01516.hp2 HG02145.hp1 HG02451.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03209.hp1 HG03704.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0021 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0003g0141 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0005t0001g0075	13	89	0.1461	-29	c.185 others(48): Show c.1856-2158_1856-2130delAACTTTTTAGAAAGTTAAAACTTTTT TTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	11/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229564582	CCATCACC others(22): Show CCATCACCATCATCATCATCATCCTCACCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp2 HG03471.hp1 HG02818.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0151 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0001t0001g0151 a0001c0002t0001g0166 a0001c0002t0001g0168	3	174	0.0172	-29	c.848 others(48): Show c.848-17519_848-17491delTGGTGAGGATGATGATGATGATGGTG ATG	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNHD1_chr11_6492280_6577020	6572850	CATGGCGA others(22): Show CATGGCGAGTGAGGGGCAGAGCGACCCAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0302 a0013c0012t0001g0302	1	335	0.0030	-29	c.86 others(38): Show c.865_*893delATGGCGAGTGAGGGGCAGAGCGACCCAAA	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding		831		chr11	TogoVar
DNM1L_chr12_32674301_32750650	32717399	AATATATA others(22): Show AATATATAATATATATTTTAAATATATACT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02572.hp2 HG02809.hp1 others(3): Show HG01175.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0018 a0001c0003t0007 a0001c0003t0018	a0001c0003t0007g0206 a0001c0003t0007g0207 a0001c0003t0007g0208 others(3): Show a0001c0003t0007g0206 a0001c0003t0007g0207 a0001c0003t0007g0208 a0001c0003t0007g0209 a0001c0003t0007g0211 a0001c0003t0018g0210	6	227	0.0264	-29	c.620 others(46): Show c.620-1236_620-1208delATATATATTTTAAATATATACTATATAT A	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNTTIP1_chr20_45786954_45816418	45800691	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03486.hp2 HG00642.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0005 a0001c0002t0002g0128 a0001c0001t0001g0005 a0001c0002t0002g0128	2	369	0.0054	-29	c.373 others(44): Show c.373-381_373-353delAAATATATATATATATATATATATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800693	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	284	0.0035	-29	c.373 others(44): Show c.373-379_373-351delATATATATATATATATATATATATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800695	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	366	0.0027	-29	c.373 others(44): Show c.373-378_373-350delTATATATATATATATATATATATATATAT	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12			chr20	TogoVar
DOCK2_chr5_169632275_170088382	169947493	GCTTCCTG others(22): Show GCTTCCTGCCCAGGGCCACGCAACTAATAT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0028 a0001c0038t0001g0028	1	182	0.0055	-29	c.280 others(50): Show c.2800-35573_2800-35545delTTCCTGCCCAGGGCCACGCAACTA ATATC	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK3_chr3_50669927_51389198	51016222	TATATCAT others(22): Show TATATCATATATTTCTACATATATATATCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	210	0.0048	-29	c.316 others(48): Show c.316-48223_316-48195delATCATATATTTCTACATATATATATC AAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51041173	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	210	0.0048	-29	c.316 others(48): Show c.316-23274_316-23246delATATATATATATATATATATATATAT ATA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK4_chr7_111721110_112211399	112113734	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp1 HG03579.hp2 HG02258.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0002 a0001c0001t0001 a0001c0011t0002	a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0011t0002g0035 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0011t0002g0035	3	5	0.6000	-29	c.37+ others(46): Show c.37+92339_37+92367delAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOCK5_chr8_25179689_25420711	25217016	TATGTATA others(22): Show TATGTATAGATGTATACAATATGTGTATAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0030 a0005c0038t0030	a0005c0038t0030g0015 a0005c0038t0030g0015	1	207	0.0048	-29	c.44- others(46): Show c.44-26634_44-26606delGTATACATGTATAGATGTATACAATATG T	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25380820	TCAGTGGA others(22): Show TCAGTGGAGGCAGCCACCATTCCGAATGCC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03209.hp1 HG02004.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0013 a0001c0009t0053 a0001c0004t0013 a0001c0009t0053	a0001c0004t0013g0185 a0001c0009t0053g0198 a0001c0004t0013g0185 a0001c0009t0053g0198	2	208	0.0096	-29	c.402 others(46): Show c.4026+469_4026+497delCACCATTCCGAATGCCCAGTGGAGGCAG C	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	39/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK7_chr1_62449726_62693386	62553340	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	216	0.0046	-29	c.259 others(46): Show c.2597-468_2597-440delAAAAAAAAAAAAAAATATATATATATAT A	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	21/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62553342	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp2 HG01192.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	192	0.0104	-29	c.259 others(46): Show c.2597-470_2597-442delAAAAAAAAAAAAAAAAATATATATATAT A	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	21/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62553344	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04228.hp2 NA18941.hp2 others(2): Show HG02004.hp2 HG04228.hp2 NA18941.hp2 NA19060.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129	5	181	0.0276	-29	c.259 others(46): Show c.2597-472_2597-444delAAAAAAAAAAAAAAAAAAATATATATAT A	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	21/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62553346	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	198	0.0051	-29	c.259 others(46): Show c.2597-474_2597-446delAAAAAAAAAAAAAAAAAAAAATATATAT A	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	21/49			chr1	TogoVar
DOK5_chr20_54470593_54656169	54542949	ATGGTAGC others(22): Show ATGGTAGCTTAGAGTAGAGTAGCATAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02717.hp1 HG02886.hp1 others(4): Show HG00642.hp1 HG02717.hp1 HG02886.hp1 HG03098.hp1 HG03471.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0002t0001	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0004g0110 others(4): Show a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0020g0121 a0001c0001t0020g0122 a0001c0002t0001g0111	7	128	0.0547	-29	c.67- others(46): Show c.67-11954_67-11926delTGGTAGCTTAGAGTAGAGTAGCATAGAG T	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DONSON_chr21_33572551_33593684	33577673	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02071.hp2 NA18939.hp1 others(1): Show HG01346.hp1 HG02071.hp2 NA18939.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0020 a0004c0004t0001 a0001c0001t0001 a0001c0001t0020 a0004c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0171 a0001c0001t0020g0269 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0171 a0001c0001t0020g0269 a0004c0004t0001g0272	4	423	0.0095	-29	c.60 others(38): Show c.605_*633delGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	605		chr21	TogoVar
DOP1B_chr21_36151824_36299274	36283641	CACCAGTA others(22): Show CACCAGTAAAGGTAATGTCAGCTCTCCAAA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0026 a0001c0002t0005g0026	1	290	0.0034	-29	c.616 others(48): Show c.6160+2031_6160+2059delACCAGTAAAGGTAATGTCAGCTCTCC AAA	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	32/36			chr21	TogoVar
DPEP1_chr16_89608642_89643433	89619224	GCTCCCTC others(22): Show GCTCCCTCCCTGCAGCCCCCTGCCCCCCCA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0167 a0002c0002t0003g0167	1	248	0.0040	-29	c.-10 others(48): Show c.-107+5511_-107+5539delTCCCTGCAGCCCCCTGCCCCCCCACT CCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH1_chr17_2025153_2048898	2035473	AGGGGGCC others(22): Show AGGGGGCCCTGCCTGTGGTGGGGAGGGGGT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	388	0.0026	-29	c.279 others(44): Show c.279-470_279-442delGGTGGGGGCCCTGCCTGTGGTGGGGAGGG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP10_chr2_114437641_115850780	114835171	CACCTATG others(22): Show CACCTATGTATATATAGGACATATCTACAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	56	0.0179	-29	c.60+ others(48): Show c.60+392362_60+392390delTACCTATGTATATATAGGACATATCT ACA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115560400	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	54	0.0185	-29	c.441 others(48): Show c.441+34430_441+34458delAAATATATATATATATATATATATAT ATA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYD_chr1_97072743_97926034	97724296	GGGGGGGG others(22): Show GGGGGGGGGGGGGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0020 a0009c0013t0004g0020	1	7	0.1429	-29	c.322 others(46): Show c.322-2654_322-2626delACACACACACACACACACCCCCCCCCCC C	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	4/22			chr1	TogoVar
DPYSL4_chr10_132181948_132210759	132205955	GCAGCCAA others(22): Show GCAGCCAACATCCAGGGCGGGACAGAGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00597.hp1 others(43): Show HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG01192.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02074.hp1 HG02074.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02615.hp2 HG02717.hp2 HG02976.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03927.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19062.hp1 NA19067.hp1 NA19074.hp2 NA19082.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0018 a0001c0021 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0011 a0001c0007t0001 a0001c0018t0007 a0001c0021t0001 a0002c0005t0007	a0001c0001t0002g0030 a0001c0001t0003g0162 a0001c0001t0007g0013 others(31): Show a0001c0001t0002g0030 a0001c0001t0003g0162 a0001c0001t0007g0013 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0101 a0001c0002t0001g0112 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0132 a0001c0002t0011g0007 a0001c0002t0011g0128 a0001c0007t0001g0031 a0001c0018t0007g0163 a0001c0021t0001g0024 a0002c0005t0007g0013 a0002c0005t0007g0172 a0002c0005t0007g0174 a0002c0005t0007g0175 a0002c0005t0007g0177 a0002c0005t0007g0178 a0002c0005t0007g0183	46	298	0.1544	-29	c.10 others(40): Show c.1026_*1054delCAGCCAACATCCAGGGCGGGACAGAGGCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		197		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26844985	TTGTCACT others(22): Show TTGTCACTGAGAAGTATAAGGAGCAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	230	0.0043	-29	c.-32 others(40): Show c.-3273_-3245delTGTCACTGAGAAGTATAAGGAGCAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding		3146		chr2	TogoVar
DSCAML1_chr11_117422772_117802216	117577437	TTTCCTTC others(22): Show TTTCCTTCCTTCCTTCCTTCCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG02451.hp1 others(2): Show HG00642.hp2 HG01123.hp1 HG02451.hp1 HG03098.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0011 a0001c0023 others(2): Show a0001c0007 a0001c0011 a0001c0023 a0001c0050 a0002c0001	a0001c0007t0002 a0001c0011t0002 a0001c0023t0001 others(2): Show a0001c0007t0002 a0001c0011t0002 a0001c0023t0001 a0001c0050t0001 a0002c0001t0001	a0001c0007t0002g0140 a0001c0011t0002g0064 a0001c0023t0001g0062 others(2): Show a0001c0007t0002g0140 a0001c0011t0002g0064 a0001c0023t0001g0062 a0001c0050t0001g0022 a0002c0001t0001g0072	5	75	0.0667	-29	c.512 others(48): Show c.512-44944_512-44916delGGAAGGAAAGGAAGGAAGGAAGGAAG GAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DTD1_chr20_18583054_18771644	18708248	TATATTAT others(22): Show TATATTATATATATATTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0244	1	396	0.0025	-29	c.478 others(48): Show c.478-35847_478-35819delTATATATATATTTTATATATATATAA TAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTL_chr1_212030748_212110013	212051442	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	25	0.0400	-29	c.460 others(46): Show c.460+4041_460+4069delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DYNC2I1_chr7_158851558_158951189	158910402	ACCTGTGG others(22): Show ACCTGTGGGAGCGCGATTGGCTGTGTCAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp2 others(95): Show HG00099.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp1 HG03453.hp2 HG03486.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18974.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0013 a0002c0002 others(6): Show a0001c0001 a0001c0013 a0002c0002 a0003c0028 a0004c0004 a0005c0008 a0006c0006 a0007c0009 a0009c0024	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0013t0002 a0002c0002t0001 a0003c0028t0023 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0005c0008t0003 a0006c0006t0002 a0007c0009t0003 a0007c0009t0020 a0009c0024t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(95): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0005g0139 a0001c0001t0005g0142 a0001c0001t0005g0161 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0013g0116 a0001c0013t0002g0175 a0002c0002t0001g0108 a0003c0028t0023g0260 a0004c0004t0001g0180 a0004c0004t0002g0137 a0004c0004t0002g0138 a0004c0004t0006g0178 a0004c0004t0006g0179 a0004c0004t0006g0181 a0005c0008t0003g0221 a0005c0008t0003g0223 a0006c0006t0002g0118 a0006c0006t0002g0219 a0007c0009t0003g0220 a0007c0009t0020g0222 a0009c0024t0002g0155	98	272	0.3603	-29	c.146 others(48): Show c.1461-1139_1461-1111delAGCGCGATTGGCTGTGTCAGGCCTGT GGG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EAF2_chr3_121830209_121891526	121832115	GTCAGGCA others(22): Show GTCAGGCACATTTCGTGTTCACTGGCCATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00280.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0172 a0001c0001t0001g0113 a0001c0001t0001g0172	2	316	0.0063	-29	c.-31 others(40): Show c.-3170_-3142delTCAGGCACATTTCGTGTTCACTGGCCATT	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding		3093		chr3	TogoVar
ECM2_chr9_92490315_92540990	92532005	TTTATTTA others(22): Show TTTATTTAATGTTTTTTTTTTTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	398	0.0025	-29	c.-28 others(46): Show c.-28+3899_-28+3927delTAAAATAAAAAAAAAAAAACATTAAATA A	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
EDARADD_chr1_236389286_236489930	236405761	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	292	0.0034	-29	c.62- others(44): Show c.62-3447_62-3419delCTTTCTTTCTTTCTTTCTTTCTTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDAR_chr2_108889471_108994220	108962646	GCCTGGGC others(22): Show GCCTGGGCGACAGAGCGAGACTCTGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	223	0.0045	-29	c.-19 others(48): Show c.-19+26285_-19+26313delTGAGACAGAGTCTCGCTCTGTCGCCC AGG	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11			chr2	TogoVar
EDIL3_chr5_83935554_84389880	84176181	AATATATA others(22): Show AATATATATATATATATAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0134 a0001c0007t0001g0134	1	154	0.0065	-29	c.355 others(46): Show c.355+4183_355+4211delATATATATATATTATATATATATATATA T	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDN2_chr1_41473775_41489683	41475615	GGAATGCT others(22): Show GGAATGCTCTTCTCCACCCTCTTCCTTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-29	c.37 others(40): Show c.3765_*3793delGTCAAGGAAGAGGGTGGAGAAGAGCATTC	EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding		3159		chr1	TogoVar
EEF1A2_chr20_63483014_63504083	63484092	GGTCCCAC others(22): Show GGTCCCACCCTTGCAGGGCTCCAGGGCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	372	0.0027	-29	c.41 others(40): Show c.4177_*4205delAGTGCCCTGGAGCCCTGCAAGGGTGGGAC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		3921		chr20	TogoVar

Search by Variant

Search

Search Results