Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MYOM2_chr8_2040046_2150456	2085572	ACTGTTGT others(255): Show ACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGT GGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCT TTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGAT CTCTGCGTGGCCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02717.hp2 others(5): Show HG02109.hp1 HG02572.hp2 HG02717.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0030 others(1): Show a0001 a0002 a0030 a0034	a0001c0023 a0001c0128 a0002c0129 others(3): Show a0001c0023 a0001c0128 a0002c0129 a0002c0147 a0030c0054 a0034c0127	a0001c0023t0001 a0001c0128t0001 a0002c0129t0001 others(3): Show a0001c0023t0001 a0001c0128t0001 a0002c0129t0001 a0002c0147t0002 a0030c0054t0001 a0034c0127t0001	a0001c0023t0001g0137 a0001c0023t0001g0385 a0001c0023t0001g0391 others(5): Show a0001c0023t0001g0137 a0001c0023t0001g0385 a0001c0023t0001g0391 a0001c0128t0001g0386 a0002c0129t0001g0393 a0002c0147t0002g0392 a0030c0054t0001g0005 a0034c0127t0001g0398	8	403	0.0199	-262	c.164 others(17): Show c.1644+184_1644+445del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64176068	GCGTCTCC others(255): Show GCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGGCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCC CCCTCCCTGGCTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	223	0.0045	-262	c.-99 others(19): Show c.-99+11331_-99+11592del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805408	TCCCCCCT others(255): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-262	c.-38 others(11): Show c.-3869_-3608del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3784		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805525	TCCCCCCT others(255): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0193 a0008c0014t0003g0193	1	319	0.0031	-262	c.-37 others(11): Show c.-3752_-3491del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3667		chr2	TogoVar
PIGN_chr18_62036164_62192056	62039730	TCATGTTT others(255): Show TCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCAT CCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCC ATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCC AGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCAT GTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCA GGGTGCCGCACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(120): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(7): Show a0001c0001 a0001c0003 a0001c0008 a0001c0016 a0001c0017 a0001c0020 a0001c0021 a0004c0007 a0005c0012 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0056 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0071 a0001c0001t0076 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0003t0001 a0001c0003t0002 a0001c0003t0129 a0001c0008t0032 a0001c0008t0033 a0001c0008t0058 a0001c0008t0141 a0001c0008t0142 a0001c0008t0143 a0001c0016t0003 a0001c0017t0013 a0001c0020t0123 a0001c0021t0063 a0004c0007t0148 a0005c0012t0033 a0006c0018t0125	a0001c0001t0001g0055 a0001c0001t0001g0179 a0001c0001t0001g0192 others(119): Show a0001c0001t0001g0055 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0002g0002 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0003g0180 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0003g0265 a0001c0001t0003g0270 a0001c0001t0003g0277 a0001c0001t0005g0187 a0001c0001t0005g0194 a0001c0001t0005g0214 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0249 a0001c0001t0005g0267 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0012g0222 a0001c0001t0012g0223 a0001c0001t0012g0248 a0001c0001t0012g0266 a0001c0001t0012g0271 a0001c0001t0012g0276 a0001c0001t0013g0185 a0001c0001t0013g0189 a0001c0001t0013g0220 a0001c0001t0013g0253 a0001c0001t0013g0263 a0001c0001t0017g0210 a0001c0001t0017g0213 a0001c0001t0017g0219 a0001c0001t0017g0252 a0001c0001t0017g0268 a0001c0001t0018g0054 a0001c0001t0018g0232 a0001c0001t0018g0264 a0001c0001t0018g0272 a0001c0001t0018g0275 a0001c0001t0023g0188 a0001c0001t0023g0255 a0001c0001t0023g0257 a0001c0001t0023g0284 a0001c0001t0024g0327 a0001c0001t0024g0328 a0001c0001t0024g0336 a0001c0001t0024g0337 a0001c0001t0030g0183 a0001c0001t0030g0269 a0001c0001t0030g0281 a0001c0001t0034g0325 a0001c0001t0034g0331 a0001c0001t0034g0335 a0001c0001t0039g0259 a0001c0001t0039g0262 a0001c0001t0040g0250 a0001c0001t0040g0261 a0001c0001t0056g0186 a0001c0001t0062g0334 a0001c0001t0062g0339 a0001c0001t0063g0330 a0001c0001t0064g0326 a0001c0001t0064g0329 a0001c0001t0071g0015 a0001c0001t0076g0260 a0001c0001t0126g0224 a0001c0001t0127g0216 a0001c0001t0128g0217 a0001c0001t0130g0177 a0001c0001t0131g0208 a0001c0001t0132g0211 a0001c0001t0133g0280 a0001c0001t0149g0314 a0001c0001t0150g0324 a0001c0001t0151g0333 a0001c0001t0152g0323 a0001c0001t0153g0320 a0001c0003t0001g0110 a0001c0003t0002g0226 a0001c0003t0129g0227 a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 a0001c0008t0033g0307 a0001c0008t0033g0309 a0001c0008t0058g0296 a0001c0008t0058g0308 a0001c0008t0141g0306 a0001c0008t0142g0294 a0001c0008t0143g0305 a0001c0016t0003g0209 a0001c0017t0013g0199 a0001c0020t0123g0184 a0001c0021t0063g0332 a0004c0007t0148g0316 a0005c0012t0033g0292 a0006c0018t0125g0181	123	342	0.3597	-262	c.58 others(11): Show c.5864_*6125del	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1433		chr18	TogoVar
POLE_chr12_132618762_132692342	132684638	GTATCACA others(255): Show GTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCT CATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGT ACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATAT CACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCAT TGACTGGTTACTA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	292	0.0034	-262	c.62+ others(15): Show c.62+2354_62+2615del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
PRDM15_chr21_41793225_41884344	41806045	TCACCACC others(255): Show TCACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCATC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCATCACCAC CACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCA CCACCACCATCACCATCACCATCACCATCACCACCATCACTACCACCATC ACCACCACCACCATCACCACCACCCATCACCACCACCACCATCACCATCA CCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp1 NA18612.hp2 others(6): Show HG02015.hp1 HG02129.hp1 NA18612.hp2 NA18975.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp2 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0220 a0001c0001t0004g0221 others(6): Show a0001c0001t0004g0200 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0247 a0001c0001t0004g0258 a0001c0001t0004g0391	9	406	0.0222	-262	c.265 others(19): Show c.2653-1693_2653-1432del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PTH2R_chr2_208401792_208499506	208470402	ATCTCATC others(255): Show ATCTCATCTTGAATTTCCACATGTTGTGGGAGAGATCTGTGGGAGGTAAT TGAATCATAGGGGCAGGTCTTTCTTGTGCTGTTCTCGTGATAGTGAATTT GTTATGAGATCTGATGATTATATAAGGGGGAGTTTCCCTGCACAAGCTCT CTTCTCTTATCTGCCGCCATGTGAGAAGTGCCCTTTCATCTTCTGTCATG ATTTGAGGCATCCCCAGCCGCATGGAACTGTAAGTCCATTAAACCTTTTT TTTCTTCCTATTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0143 a0001c0003t0003g0143	1	294	0.0034	-262	c.981 others(19): Show c.981+10444_982-10404del	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PXMP2_chr12_132682587_132709985	132684638	GTATCACA others(255): Show GTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCT CATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGT ACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATAT CACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCAT TGACTGGTTACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	350	0.0029	-262	c.-30 others(11): Show c.-3032_-2771del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		2948		chr12	TogoVar
RNF148_chr7_122696668_122707922	122705707	CATATATT others(255): Show CATATATTATATAATATATCATATATTATATAATATATAATATATATAAT ATATAATATATGATATATTATATAATATATATCATATATAATATAATATA TATGATATATAATAATATATATTTATATATAATATATATTATATAACATA TTATACATATTATATATAATATAATATAATAAATATAATATAATATATAA TATATTATATAATATAATATATAATATATTATATAATATAATATATAATA TATATATAATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0001c0014 a0002c0003 a0003c0004 a0005c0007 a0007c0010 a0008c0012 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0006t0001 a0001c0013t0001 a0001c0014t0001 a0002c0003t0001 a0003c0004t0001 a0005c0007t0001 a0007c0010t0001 a0008c0012t0001 a0009c0008t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(11): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 a0001c0013t0001g0000 a0001c0014t0001g0000 a0002c0003t0001g0000 a0003c0004t0001g0000 a0005c0007t0001g0000 a0007c0010t0001g0000 a0008c0012t0001g0000 a0009c0008t0001g0000	290	432	0.6713	-262	c.-32 others(11): Show c.-3219_-2958del	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2786		chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1288686	TGTCCCTG others(255): Show TGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG TTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0128 a0004c0005t0006g0128	1	290	0.0035	-262	c.166 others(17): Show c.1662+653_1662+914del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC7A3_chrX_70920579_70936096	70921202	AAAAGAGT others(255): Show AAAAGAGTCTCACTGGAACCTACCTTTTCTGCCTTATTTTTCCACTTCAT CCCTTCAAAATCCTAGGCTCCAGGCAAGATGAATTATAAGCTTTCCCATC TTTTTGCCTTTGTACACAAGATTCCATCCTCCTGGATGCTGTCACTCCAA TTCACTAAATTACACATTTTACCTATTCTTTAAGCTTTAGCTTAAAAGCC TTGACCTCTGTGAAGCCTTCCCAGAACTACTTGCAAGAACTCCGTCATGT GAATTCTCATGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(35): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG02074.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03130.hp1 HG03209.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG06807.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0003 a0002c0001 a0003c0016 others(2): Show a0001c0003 a0002c0001 a0003c0016 a0004c0009 a0010c0015	a0001c0003t0001 a0002c0001t0001 a0003c0016t0001 others(2): Show a0001c0003t0001 a0002c0001t0001 a0003c0016t0001 a0004c0009t0002 a0010c0015t0001	a0001c0003t0001g0003 a0001c0003t0001g0014 a0001c0003t0001g0026 others(9): Show a0001c0003t0001g0003 a0001c0003t0001g0014 a0001c0003t0001g0026 a0001c0003t0001g0050 a0001c0003t0001g0053 a0001c0003t0001g0057 a0001c0003t0001g0061 a0001c0003t0001g0072 a0002c0001t0001g0008 a0003c0016t0001g0046 a0004c0009t0002g0055 a0010c0015t0001g0051	38	312	0.1218	-262	c.43 others(11): Show c.4349_*4610del	SLC7A3	ENSG00000165349.12	transcript	ENST00000374299.8	protein_coding		4376		chrX	TogoVar
SLIT2_chr4_20246905_20625561	20472370	CTATATCT others(255): Show CTATATCTATATATATGTAGATATATAGATATAGATATCTATATATCTAT ATATATAGATATCTATAGATATATATCTATATAGATATATCTATATCTAT ATATAGATATATATCTATATATAGATATATATCTATATATAGATAGATAT ATATCTATATATAGATATATCTATATCTATATATAGATATATATCTATAT ATAGATATATCTATATATAGATATATATCTATAGATATATCTATATATAT CGATATATCTATA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 NA20129.hp2 HG02976.hp2 HG03209.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0017 a0001c0001 a0001c0011 a0003c0017	a0001c0001t0024 a0001c0011t0080 a0003c0017t0001 a0001c0001t0024 a0001c0011t0080 a0003c0017t0001	a0001c0001t0024g0010 a0001c0011t0080g0093 a0003c0017t0001g0040 a0001c0001t0024g0010 a0001c0011t0080g0093 a0003c0017t0001g0040	3	230	0.0130	-262	c.467 others(17): Show c.467+4554_467+4815del	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
TIAM2_chr6_154990315_155262723	155027885	GTGTTACA others(255): Show GTGTTACATATATACTATATAATATGTACTGTGTTACATATATACTATAT ATAATATATGTACTGTGTTACATATATACTATATATAATATATGTACTGT GTTACATATATACTATATATAATATATGTACTGTGTTATATACTATATAT AATATATGTACTGTGTTACATATATACTATATATAATATATGTACTGTGT TACATATATACTATATATAATATATGTACTGTGTTACATATATACTATAT ATAATATATGTAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0026 a0026	a0026c0061 a0026c0061	a0026c0061t0031 a0026c0061t0031	a0026c0061t0031g0064 a0026c0061t0031g0064	1	230	0.0044	-262	c.-20 others(21): Show c.-209+32410_-209+32671del	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TRAPPC9_chr8_139722725_140462744	140110308	ACAGCAGC others(255): Show ACAGCAGCTCCCTCCTGCAGCAGCTCCCTCCTGCAGCAGCTCCCTCCTGC AGCAGCTCCCTGCTGCACCCCCTGCATCCCCCGTGGTACCTCCCCCTACA GCAGCTCCCCCCATGCTCCCCCTACAGCAGCTCCCTCCTGCAGCAGCTCC CTCCTGCAGCAGCTCCCTCCTGCAGCAGCTCCCTGCTGCACCCCCTGCAT CCCCCGTGGTACCTCCCCCTACAGCAGCTCCCCACATGCTCCCCCTACAG CAGCTCCCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(82): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp1 NA18906.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0001c0019 a0001c0020 a0001c0022 a0001c0024 a0001c0026 a0001c0027 a0002c0010 a0004c0021 a0005c0016 a0006c0011 a0007c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(52): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0013 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0011 a0001c0003t0014 a0001c0003t0020 a0001c0004t0001 a0001c0004t0004 a0001c0004t0010 a0001c0004t0028 a0001c0004t0033 a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0005t0027 a0001c0005t0030 a0001c0006t0005 a0001c0006t0006 a0001c0007t0002 a0001c0007t0015 a0001c0008t0002 a0001c0008t0003 a0001c0009t0005 a0001c0009t0021 a0001c0012t0001 a0001c0013t0001 a0001c0015t0032 a0001c0019t0031 a0001c0020t0007 a0001c0022t0002 a0001c0024t0016 a0001c0026t0002 a0001c0027t0012 a0002c0010t0002 a0004c0021t0002 a0005c0016t0026 a0006c0011t0004 a0007c0017t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 others(82): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0004g0064 a0001c0001t0004g0078 a0001c0001t0008g0083 a0001c0001t0009g0072 a0001c0001t0024g0061 a0001c0001t0025g0082 a0001c0001t0029g0077 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0016 a0001c0002t0002g0028 a0001c0002t0002g0039 a0001c0002t0002g0049 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0038 a0001c0002t0003g0041 a0001c0002t0003g0044 a0001c0002t0007g0022 a0001c0002t0013g0005 a0001c0002t0017g0036 a0001c0002t0019g0032 a0001c0002t0022g0009 a0001c0002t0023g0015 a0001c0003t0001g0052 a0001c0003t0002g0004 a0001c0003t0002g0014 a0001c0003t0002g0020 a0001c0003t0003g0045 a0001c0003t0005g0013 a0001c0003t0007g0037 a0001c0003t0011g0011 a0001c0003t0014g0030 a0001c0003t0020g0047 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0093 a0001c0004t0001g0097 a0001c0004t0004g0087 a0001c0004t0004g0094 a0001c0004t0010g0089 a0001c0004t0010g0090 a0001c0004t0028g0098 a0001c0004t0033g0084 a0001c0005t0004g0056 a0001c0005t0004g0079 a0001c0005t0008g0065 a0001c0005t0008g0076 a0001c0005t0009g0057 a0001c0005t0027g0080 a0001c0005t0030g0063 a0001c0006t0005g0017 a0001c0006t0006g0024 a0001c0007t0002g0031 a0001c0007t0015g0018 a0001c0008t0002g0051 a0001c0008t0003g0021 a0001c0009t0005g0010 a0001c0009t0021g0042 a0001c0012t0001g0092 a0001c0013t0001g0095 a0001c0015t0032g0066 a0001c0019t0031g0055 a0001c0020t0007g0034 a0001c0022t0002g0040 a0001c0024t0016g0050 a0001c0026t0002g0048 a0001c0027t0012g0012 a0002c0010t0002g0002 a0004c0021t0002g0033 a0005c0016t0026g0070 a0006c0011t0004g0091 a0007c0017t0001g0062	85	98	0.8674	-262	c.255 others(21): Show c.2557-86491_2557-86230del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TTLL8_chr22_50013575_50063298	50028886	ACCCCACA others(255): Show ACCCCACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACAC ACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0195 a0004c0004t0003g0195	1	224	0.0045	-262	c.225 others(19): Show c.2251+1282_2251+1543del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBGCP5_chr15_22994177_23044569	23040742	GTAACCCC others(255): Show GTAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCT GGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTGACCAGGGGTGCT GGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATAA TCTGACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACCTGGCCAG AGGTGTTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCTGGGGGGC GGGGGGAACTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01192.hp1 others(9): Show HG00735.hp2 HG01099.hp1 HG01192.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004	a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0003t0001g0019 others(8): Show a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0003t0001g0019 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0004g0128	12	351	0.0342	-262	c.-14 others(11): Show c.-1461_-1200del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1174		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23040934	CTGGCCAG others(255): Show CTGGCCAGAGGTGTTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGC TGGGGGGCGGGGGGAACTTCTTAACCCCACCTGGCCAGAGGTGCTGGGGG TGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAAC CCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGA GGTGCTGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACA TCATAACCCCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG02027.hp1 others(12): Show HG00544.hp1 HG00597.hp2 HG02027.hp1 HG02074.hp1 HG02132.hp2 HG02155.hp1 HG03834.hp2 NA18947.hp1 NA18955.hp1 NA18960.hp1 NA18978.hp2 NA18982.hp1 NA18992.hp1 NA18993.hp2 NA19009.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0014 a0001c0002 a0004c0014	a0001c0002t0002 a0004c0014t0002 a0001c0002t0002 a0004c0014t0002	a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 others(10): Show a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0002t0002g0104 a0001c0002t0002g0115 a0001c0002t0002g0120 a0004c0014t0002g0255	15	351	0.0427	-262	c.-16 others(11): Show c.-1653_-1392del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1366		chr15	TogoVar
USP40_chr2_233470526_233571782	233567812	TTATAGTT others(255): Show TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0014 a0023c0033t0014	a0023c0033t0014g0023 a0023c0033t0014g0023	1	324	0.0031	-262	c.-14 others(11): Show c.-1410_-1149del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1031		chr2	TogoVar
ZNF484_chr9_92839182_92883038	92872231	CAAAAAAA others(255): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAAAGCAGAGGCAATAAAAGA GAGTCAGAGAAAGATGCGACTACAAAAGAGTGGTCAGAGAGATACAATGT TGATGGCTTTGAAGTTGGAGGAAAGGGCCACAAACTGAAATGTGAGCACC CACTAGAAGCTAGAAAAGTCAGAAAATAGAAACAGATTCTTTCAGGTTGC GGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAA TCTCTGCCTCAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02897.hp1 HG01952.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0077 a0001c0001t0005g0191 a0001c0001t0004g0077 a0001c0001t0005g0191	2	402	0.0050	-262	c.15+ others(15): Show c.15+2522_15+2783del	ZNF484	ENSG00000127081.14	transcript	ENST00000375495.8	protein_coding	2/4			chr9	TogoVar
ZNF573_chr19_37733302_37784586	37747072	GTCTGAAG others(255): Show GTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGA TTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAG AAGAAACAAATATGTCTTATAGAAGAATTCTGTCTGAAGTTGAAACGGTA TGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAA ACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTA TAGAAGAATTCTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0007 a0001c0008 others(9): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0006c0009 a0007c0012 a0008c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0001c0008t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0005c0005t0002 a0006c0006t0002 a0006c0009t0002 a0007c0012t0001 a0008c0010t0001 a0009c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(330): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0312 a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0311 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0007t0001g0024 a0001c0007t0001g0034 a0001c0007t0001g0040 a0001c0008t0001g0262 a0001c0008t0001g0263 a0002c0002t0002g0072 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0202 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0211 a0002c0002t0002g0306 a0003c0003t0001g0011 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0001g0322 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0332 a0003c0003t0001g0334 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0255 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0274 a0004c0004t0001g0281 a0004c0004t0001g0292 a0005c0005t0002g0007 a0005c0005t0002g0113 a0005c0005t0002g0150 a0005c0005t0002g0151 a0005c0005t0002g0167 a0005c0005t0002g0169 a0006c0006t0002g0313 a0006c0006t0002g0330 a0006c0006t0002g0331 a0006c0006t0002g0333 a0006c0009t0002g0310 a0007c0012t0001g0284 a0008c0010t0001g0245 a0009c0011t0001g0037	349	350	0.9971	-262	c.296 others(17): Show c.296-7140_296-6879del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ACSF3_chr16_89088852_89161233	89122020	CTGAAGTG others(254): Show CTGAAGTGGGTATTCTGTTTCCCCGTGGAAACCTCTCACCTGGGGCCACC TGCAGTGGCCGCACCTTGTGTGGAGGGCCGCACAGTGTGTCCCGCCTGGC CTGGGCCACCCGCAGTGGGCTGTTATCCCCCGTGGCCCTGAAGTGGGTAT TCTGTTTCCCCATGGAAACCTCTCACCTGGGGCCACCTGCAGTGGCCGCA CCTTGTGTGGAGGGCCGCACAGTGTGTCCCGCCTGGCCTGGGCCCCCCGC AGTGGGCTGTTA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0240 a0002c0003t0052g0240	1	368	0.0027	-261	c.123 others(19): Show c.1239+1109_1239+1369del	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
AHRR_chr5_316714_443285	391866	GCGCAGGG others(254): Show GCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAA CACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGT GCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTG CACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGC ACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAG AGCGTGCACGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0016 a0001c0001t0059g0016	1	268	0.0037	-261	c.351 others(19): Show c.351+15174_351+15434del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391890	TGAGGCAG others(254): Show TGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGC GCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCG CAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAG GCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGG AGGGCGCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0032 a0001c0001t0009g0030 a0001c0001t0007g0032 a0001c0001t0009g0030	2	268	0.0075	-261	c.351 others(19): Show c.351+15198_351+15458del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK5_chr1_77277019_77564966	77444327	TATATAGT others(254): Show TATATAGTATATATACACAATATATGTGTATATATAGTATAAATATATAC TATATATAGTATATATAGTATAAATATATACTATATATAGTATATACATA GTATAAATATATACTATATATAGTATATACATAGTATAAATATATACTAT ATATAGTATATACATAGTATAAATATATACTATATATAGTATATACATAG TATAAATATATACTATATATAGTATATACATAGTATAAATATATACTATA TATAGTATATAC	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	284	0.0035	-261	c.105 others(21): Show c.1059+26616_1059+26876del	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
C4orf19_chr4_37448925_37598510	37585367	AGAGGAGA others(254): Show AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGG AGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGAAGGAGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG AAGGAGAGGGGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 NA20752.hp1 HG01099.hp2 HG01515.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0119 a0001c0001t0003g0161 a0001c0001t0013g0100 a0001c0001t0003g0119 a0001c0001t0003g0161 a0001c0001t0013g0100	3	354	0.0085	-261	c.-22 others(17): Show c.-22-3452_-22-3192del	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1191608	CGGTGACC others(254): Show CGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCAGGG TTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTC GGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACT CGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCAC ACTCAGGGTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0058 a0058	a0058c0069 a0058c0069	a0058c0069t0033 a0058c0069t0033	a0058c0069t0033g0049 a0058c0069t0033g0049	1	338	0.0030	-261	c.300 others(17): Show c.300-3340_300-3080del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	7642949	AGCTTGGT others(254): Show AGCTTGGTCCTGCAGAAGCTGCCATGGCTGAGTGCACTCCAGGCCTGCAG GAAGTAGCCTGGAACCTCCTTTCTGGGGCTTAGTCAGTGCTTTCAAAATT AGGGTCCTAAGTACTCTTGCCTTGAAAGGGTGACCAGGGTCCAGGTGCTT CTGAAGCTCCTCCCACCCCTCAGTGTTTACATTTAGAGGGGAGTTCCTGC TCAAAACAAGTCTTCAGTCAGGAGGAGGAGTTGCCTTCCTGGCCTTTCTG AGCCTTCTGTCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0031 a0001c0010t0004g0031	1	58	0.0172	-261	c.664 others(17): Show c.664+2401_664+2661del	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDK12_chr17_39456486_39539544	39498946	TCTTTCTT others(254): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0187 a0001c0001t0051g0187	1	260	0.0039	-261	c.242 others(19): Show c.2420-2299_2420-2039del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COL4A2_chr13_110302284_110518209	110355549	GTGGGGGA others(254): Show GTGGGGGAGGGCTGTACTAGCTCACCTGTGTGGGGGGAGGGCAGTACCAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGG GGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGC TCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGG GAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTC ACCTGTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19010.hp2 HG02027.hp2 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0075 a0001c0005 a0001c0075	a0001c0005t0001 a0001c0075t0001 a0001c0005t0001 a0001c0075t0001	a0001c0005t0001g0362 a0001c0075t0001g0106 a0001c0005t0001g0362 a0001c0075t0001g0106	2	372	0.0054	-261	c.100 others(17): Show c.100-1922_100-1662del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
DGKB_chr7_14140049_14907751	14211286	ACTATGTG others(254): Show ACTATGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp2 HG00597.hp2 HG02056.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0002 a0002c0005t0006 a0001c0004t0002 a0002c0005t0006	a0001c0004t0002g0115 a0002c0005t0006g0139 a0001c0004t0002g0115 a0002c0005t0006g0139	2	148	0.0135	-261	c.212 others(21): Show c.2123-33396_2123-33136del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51774912	AGTATTCT others(254): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGT ATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATG TATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTA CATGTATTCTAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02615.hp1 others(1): Show HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0192 others(1): Show a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0192 a0002c0002t0003g0207	4	420	0.0095	-261	c.364 others(16): Show c.364-1139_364-879del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775187	AGTATTCT others(254): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGT ATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATG TATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTA CATGTATTCTAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0232 a0002c0002t0003g0232	1	420	0.0024	-261	c.364 others(17): Show c.364-1414_364-1154del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775462	AGTATTCT others(254): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGT ATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATG TATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTA CATGTATTCTAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 HG02258.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0192 a0002c0002t0003g0209 a0002c0002t0003g0192 a0002c0002t0003g0209	2	420	0.0048	-261	c.363 others(17): Show c.363+1337_364-1429del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1016223	ACGATGCC others(254): Show ACGATGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGAC CAGGACAGACGG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-261	c.73+ others(19): Show c.73+108260_73+108520del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH11_chr7_21538039_21906839	21774237	TGGGATAT others(254): Show TGGGATATTGAAGGGAGCAGACACAGCGGATTGCCTCTCTTGTCTCTGAC TTCTTCAGTGCACGGTACTTGTCGTCAAGGTTCTTATCATCCTAGGATGG ACCAGTATCTTTTTTGGTCTCAGATTCTCAACCTCCAGTGAGGGCATCAT TTTCTGGCTAATGACTGTGGCGAGATCCCAAGGTAGAGCTGTTCCTCCCT TAGTGACTTGTCTGCTCCTCTTACACATCTGTGTCCTCAGTCCTGAGGCC CCTGCTCCCTCG	T T	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0015 a0015	a0015c0123 a0015c0123	a0015c0123t0004 a0015c0123t0004	a0015c0123t0004g0071 a0015c0123t0004g0071	1	298	0.0034	-261	c.933 others(17): Show c.9336+239_9336+499del	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	56/81			chr7	TogoVar
DPP10_chr2_114437641_115850780	114834939	CACCTATG others(254): Show CACCTATGTATATATAAGCCATATCTACACACCTATGTATATAAAAGACA TATCTACACACCTATGTATATAAAAGACATATCTACACACCTATGTACAT ATCAGCCATATCTACACACCTATGTATATATAAGCCATATCTACACACCT ATGTATATATAAGCCATATCTACACACCTATGTATATATAAGACATATCT ACACACCTATGTATATATAAGCCATATCTACACACCTATGTATATATAGG ACATATCTACAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02809.hp1 others(3): Show HG01243.hp1 HG02109.hp2 HG02809.hp1 HG02809.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0004c0005	a0001c0002t0001 a0002c0001t0002 a0003c0003t0003 others(1): Show a0001c0002t0001 a0002c0001t0002 a0003c0003t0003 a0004c0005t0003	a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0041 others(3): Show a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0041 a0002c0001t0002g0037 a0003c0003t0003g0048 a0004c0005t0003g0007	6	56	0.1071	-261	c.60+ others(19): Show c.60+392117_60+392377del	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXOC3L4_chr14_103089725_103115559	103109428	TCTCCCTC others(254): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG TCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01081.hp2 HG02572.hp1 others(2): Show HG00544.hp1 HG01081.hp2 HG02572.hp1 NA18969.hp2 NA18979.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0003 a0003c0001 a0004c0010 others(1): Show a0001c0003 a0003c0001 a0004c0010 a0008c0036	a0001c0003t0001 a0001c0003t0002 a0003c0001t0003 others(2): Show a0001c0003t0001 a0001c0003t0002 a0003c0001t0003 a0004c0010t0002 a0008c0036t0009	a0001c0003t0001g0259 a0001c0003t0002g0273 a0003c0001t0003g0139 others(2): Show a0001c0003t0001g0259 a0001c0003t0002g0273 a0003c0001t0003g0139 a0004c0010t0002g0311 a0008c0036t0009g0094	5	404	0.0124	-261	c.197 others(17): Show c.1977-594_1977-334del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362107	ACCACCTC others(254): Show ACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCAC CACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCT CCAGCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACC ACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACCACCAC CACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCT CCTCCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0110 a0001c0002t0010g0110	1	230	0.0044	-261	c.544 others(19): Show c.544-11560_544-11300del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241806518	GACCTCCG others(254): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA18982.hp2 HG02886.hp2 NA18982.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0162 a0003c0003t0001g0038 a0002c0002t0002g0162 a0003c0003t0001g0038	2	314	0.0064	-261	c.23 others(11): Show c.2353_*2613del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2232		chr2	TogoVar
GRK5_chr10_119202571_119464745	119394427	TACGTGTA others(254): Show TACGTGTATGGGTGTGTGTATCTGCTTAGTGGGCACGTGTGTGGATGTGT GTGGGTGTGTGTATCTGCGTGTCTGTGGGCACGTGTGTGTGGGTGTGTGT GGGTGTGTATCTGTGTGTGGGGGCACGTGTATGTTTGGGTGTGTGTGTGT CTGTGTGTGGGTGTGTGTCTGTGTGTGGGCACGTGTATGTTTGGGTGTGT GGGTGTGTGTGTGGGTGTGTGTGTGGGTGTGTGTATCTGTGTCTGTGGGC ACGTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01167.hp1 others(38): Show HG00597.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18971.hp1 NA18995.hp2 NA18998.hp2 NA19082.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0005 others(1): Show a0001c0001 a0002c0003 a0002c0005 a0003c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0042 a0001c0001t0063 a0001c0001t0064 a0001c0001t0076 a0001c0001t0084 a0002c0003t0004 a0002c0003t0008 a0002c0003t0020 a0002c0003t0025 a0002c0003t0027 a0002c0003t0032 a0002c0003t0035 a0002c0003t0080 a0002c0005t0007 a0003c0002t0003 a0003c0002t0058	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0041 others(38): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0008g0064 a0001c0001t0008g0101 a0001c0001t0011g0037 a0001c0001t0011g0046 a0001c0001t0012g0010 a0001c0001t0012g0030 a0001c0001t0015g0134 a0001c0001t0015g0156 a0001c0001t0020g0044 a0001c0001t0022g0094 a0001c0001t0023g0098 a0001c0001t0023g0118 a0001c0001t0024g0091 a0001c0001t0025g0185 a0001c0001t0042g0193 a0001c0001t0063g0013 a0001c0001t0064g0142 a0001c0001t0076g0163 a0001c0001t0084g0192 a0002c0003t0004g0097 a0002c0003t0008g0067 a0002c0003t0020g0133 a0002c0003t0025g0045 a0002c0003t0027g0170 a0002c0003t0032g0109 a0002c0003t0035g0063 a0002c0003t0080g0015 a0002c0005t0007g0017 a0003c0002t0003g0051 a0003c0002t0058g0191	41	202	0.2030	-261	c.262 others(17): Show c.262-2267_262-2007del	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15			chr10	TogoVar
IL3RA_chrX_1331785_1387689	1366264	GGGTGAGC others(254): Show GGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTG AGCCGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGG GGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGA GCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGG GTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCG CGGGGTGAGCCC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	115	0.0087	-261	c.874 others(17): Show c.874+1026_874+1286del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB5_chr3_124756948_124892365	124789381	ACAGAACC others(254): Show ACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0317 a0001c0002t0005g0317	1	352	0.0028	-261	c.169 others(19): Show c.1693+6746_1693+7006del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789816	TCAGAACC others(254): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	352	0.0028	-261	c.169 others(19): Show c.1693+6311_1693+6571del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789990	TCAGAACC others(254): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAACAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02922.hp1 others(1): Show HG02055.hp2 HG02622.hp1 HG02922.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0009 a0001c0001t0014 a0001c0011t0002 a0001c0001t0009 a0001c0001t0014 a0001c0011t0002	a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0014g0310 others(1): Show a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0014g0310 a0001c0011t0002g0068	4	352	0.0114	-261	c.169 others(19): Show c.1693+6137_1693+6397del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19452090	GAAGAGAA others(254): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0020 a0002c0002t0005g0020	1	163	0.0061	-261	c.995 others(17): Show c.995+4562_995+4822del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MICAL3_chr22_17782649_18029561	17877243	GGGAGGTT others(254): Show GGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0251 a0002c0005t0005g0251	1	274	0.0037	-261	c.224 others(19): Show c.2242-5481_2242-5221del	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MYZAP_chr15_57586904_57690364	57688130	TATATGTG others(254): Show TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACAT ATATTATGTGTGTACAATATACACATATATAATATGTGTGTACAATATAC ACATATATATAATATGTGTGTACAATATACACATATATATAATATGTGTG TACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00642.hp1 others(23): Show HG00140.hp2 HG00438.hp1 HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01496.hp2 HG01515.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp2 HG02738.hp1 HG02895.hp1 HG03710.hp1 HG03942.hp2 NA18955.hp1 NA19043.hp2 NA19070.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0185 others(22): Show a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0002g0154 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0004g0243 a0001c0001t0009g0202 a0001c0001t0009g0215 a0001c0003t0001g0172 a0001c0003t0002g0002 a0001c0003t0002g0021 a0001c0003t0002g0036 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0143 a0002c0002t0002g0006 a0002c0002t0002g0074	26	352	0.0739	-261	c.36 others(11): Show c.3633_*3893del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2767		chr15	TogoVar
NEU4_chr2_241804193_241822413	241806497	TCCCTCCC others(254): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0070 a0001c0016t0001g0070	1	319	0.0031	-261	c.-27 others(11): Show c.-2780_-2520del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2695		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806518	GACCTCCG others(254): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02886.hp2 NA18951.hp2 others(2): Show HG01981.hp1 HG02886.hp2 NA18951.hp2 NA18982.hp1 NA19004.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0003 a0003c0007 others(1): Show a0001c0001 a0002c0003 a0003c0007 a0009c0010	a0001c0001t0001 a0002c0003t0002 a0003c0007t0002 others(1): Show a0001c0001t0001 a0002c0003t0002 a0003c0007t0002 a0009c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0003t0002g0144 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0003t0002g0144 a0003c0007t0002g0020 a0009c0010t0001g0001	5	319	0.0157	-261	c.-27 others(11): Show c.-2759_-2499del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2674		chr2	TogoVar

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Search Results (Total: 10000 hits)