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
ASB5_chr4_176208673_176274222	176218228	TATATATA others(273): Show TATATATATTTGTATGATATATAAATATATATATATTTGTATGATATATA AATATATATATATTTGTATGATATATAAATATATATATTTGTATGATATA TATATTTGTATGATATATAAATATATATTTGTATGATATATAAATATATA TGTATGATATATAAATATATATTTGTATGATATATAAATATATATATTTG TATGATATATAAATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATAAATATATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 NA18906.hp1 HG02809.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149	3	410	0.0073	-280	c.671 others(17): Show c.671-1499_671-1220del	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
B3GNTL1_chr17_82937149_83056770	83003210	CCGCCCTC others(273): Show CCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCT CCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCAG TCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGAT TCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAG CCCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCC TCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp1 NA20805.hp1 HG01168.hp2 HG01515.hp1 NA20805.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0007 a0002c0009t0003 a0002c0005t0007 a0002c0009t0003	a0002c0005t0007g0236 a0002c0009t0003g0096 a0002c0009t0003g0103 a0002c0005t0007g0236 a0002c0009t0003g0096 a0002c0009t0003g0103	3	266	0.0113	-280	c.459 others(17): Show c.459+1625_459+1904del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003870	CCCACTCT others(273): Show CCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCC TCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGT GTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTGAG CCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACT CTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0235 a0002c0005t0007g0235	1	266	0.0038	-280	c.459 others(16): Show c.459+965_459+1244del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1430071	GTCTGGTC others(273): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0158	1	360	0.0028	-280	c.92- others(15): Show c.92-5968_92-5689del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431393	GTCTGGTC others(273): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	360	0.0028	-280	c.92- others(15): Show c.92-4646_92-4367del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431440	GTCTGGTC others(273): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03704.hp1 HG03831.hp2 others(1): Show HG01255.hp1 HG03704.hp1 HG03831.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0020 a0002c0002t0040 others(1): Show a0002c0002t0007 a0002c0002t0020 a0002c0002t0040 a0002c0002t0071	a0002c0002t0007g0306 a0002c0002t0020g0125 a0002c0002t0040g0298 others(1): Show a0002c0002t0007g0306 a0002c0002t0020g0125 a0002c0002t0040g0298 a0002c0002t0071g0249	4	360	0.0111	-280	c.92- others(15): Show c.92-4599_92-4320del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432339	GTCTGGTC others(273): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18612.hp2 NA18982.hp1 HG00408.hp2 NA18612.hp2 NA18982.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0009 a0002c0002t0008 a0005c0010t0002 a0001c0001t0009 a0002c0002t0008 a0005c0010t0002	a0001c0001t0009g0153 a0002c0002t0008g0151 a0005c0010t0002g0085 a0001c0001t0009g0153 a0002c0002t0008g0151 a0005c0010t0002g0085	3	360	0.0083	-280	c.92- others(15): Show c.92-3700_92-3421del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
C1orf159_chr1_1076823_1121089	1108628	AGCAGCAC others(273): Show AGCAGCACCGTCCACCACAGCCACCATGTCTCGGCAGCACCGTTCACCAC AGCCACCATGTCTCAGCACCATCCACCACGGCCACCATGTCTCAGCAGCA CCGTCCACCACAGCCACCATGTCTCGGCAGCACCGTTCACCACAGCCACC ATGTCTCGGCACCGTTCACCACAGCCACCATGTCTGCAGCAGCATTGTTC ACCACAGCCACCATGTCTCGGCACCATCCACCACGGCCACCATGTCTCAG CAGCACCGTCCACCACAGCCACCATGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18966.hp1 NA19030.hp1 HG02622.hp2 NA18966.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0001 a0001c0001t0003 a0003c0006t0001	a0001c0001t0003g0206 a0001c0001t0003g0207 a0003c0006t0001g0070 a0001c0001t0003g0206 a0001c0001t0003g0207 a0003c0006t0001g0070	3	326	0.0092	-280	c.-13 others(19): Show c.-136+7152_-136+7431del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
CDH4_chr20_61247261_61945617	61944116	CTGCACCG others(273): Show CTGCACCGTGGCCGCCCCTTCTCACTGACGATGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCCT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCATTGCGACTGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0073 a0002c0002t0016g0073	1	106	0.0094	-280	c.71 others(11): Show c.7174_*7453del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3500		chr20	TogoVar
CDK12_chr17_39456486_39539544	39498928	TTTCTTTC others(273): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01070.hp2 others(12): Show HG00558.hp1 HG01069.hp1 HG01070.hp2 HG01255.hp1 HG01433.hp2 HG01993.hp1 HG02258.hp2 HG02602.hp1 HG02809.hp1 HG03704.hp2 HG04115.hp2 NA18747.hp2 NA19007.hp2 NA19009.hp1 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0048 a0004c0004t0017	a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0172 others(12): Show a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0006g0214 a0001c0001t0006g0253 a0001c0001t0007g0075 a0001c0001t0026g0148 a0001c0001t0048g0189 a0004c0004t0017g0246	15	260	0.0577	-280	c.242 others(19): Show c.2420-2319_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CEP131_chr17_81184596_81227965	81209713	GCGCTCGG others(273): Show GCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGACCGCTCGGAGAAGCG GACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGA TCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAG AAGCGGACGCTAAGCGAGGATCAGACCGCTCCGAGAAGCGGACGCTAAGC GAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCT CGGAGAAGCGGACGCTAAGCGAGGATCAGAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18982.hp2 NA18989.hp1 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(7): Show a0001 a0002 a0006 a0007 a0009 a0013 a0018 a0034 a0036 a0040	a0001c0001 a0001c0003 a0001c0012 others(14): Show a0001c0001 a0001c0003 a0001c0012 a0001c0018 a0001c0019 a0001c0027 a0001c0062 a0001c0074 a0002c0061 a0006c0007 a0007c0064 a0009c0011 a0013c0017 a0018c0028 a0034c0063 a0036c0060 a0040c0059	a0001c0001t0001 a0001c0003t0002 a0001c0012t0001 others(14): Show a0001c0001t0001 a0001c0003t0002 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0001c0027t0001 a0001c0062t0001 a0001c0074t0001 a0002c0061t0001 a0006c0007t0001 a0007c0064t0001 a0009c0011t0001 a0013c0017t0001 a0018c0028t0001 a0034c0063t0001 a0036c0060t0001 a0040c0059t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(97): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0003t0002g0047 a0001c0012t0001g0143 a0001c0012t0001g0146 a0001c0012t0001g0147 a0001c0012t0001g0148 a0001c0018t0001g0160 a0001c0018t0001g0179 a0001c0018t0001g0191 a0001c0018t0001g0216 a0001c0019t0001g0189 a0001c0019t0001g0210 a0001c0019t0001g0230 a0001c0027t0001g0180 a0001c0027t0001g0240 a0001c0062t0001g0227 a0001c0074t0001g0243 a0002c0061t0001g0175 a0006c0007t0001g0158 a0006c0007t0001g0176 a0006c0007t0001g0177 a0007c0064t0001g0208 a0009c0011t0001g0019 a0009c0011t0001g0171 a0009c0011t0001g0226 a0009c0011t0001g0237 a0013c0017t0001g0173 a0013c0017t0001g0187 a0013c0017t0001g0202 a0013c0017t0001g0228 a0018c0028t0001g0134 a0018c0028t0001g0223 a0034c0063t0001g0184 a0036c0060t0001g0172 a0040c0059t0001g0163	117	384	0.3047	-280	c.178 others(15): Show c.178-971_178-692del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CLCN7_chr16_1439935_1480028	1459685	TCAGGGAA others(273): Show TCAGGGAAGGGGAGCTCAGCACACATGTCGGGGCCTCAGGGAAGGGGAGC TCAGCACACACTTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACACTTCG GGGCCCCAGGGAAGGGGAGAGCGGCACACACGTCGGGGCCTCAGGGAAGG GGAGCTCAGCACACACGTCGGGGCCCCAGGGAAGGGGAGCTCAGCACACA TGTCGGGGCCTCAGGGAAGGGGAGAGCAGCACACACGTCGGGGCCTCAGG GAAGGGGAGAGCAGCACACACTTCGGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp2 others(45): Show HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03831.hp2 NA18522.hp1 NA18906.hp2 NA18954.hp1 NA18955.hp1 NA18991.hp2 NA19054.hp1 NA19056.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0007 a0001c0015 others(3): Show a0001c0005 a0001c0007 a0001c0015 a0002c0006 a0002c0026 a0003c0021	a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 others(13): Show a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0007t0003 a0001c0007t0040 a0001c0015t0028 a0001c0015t0046 a0002c0006t0010 a0002c0006t0024 a0002c0006t0025 a0002c0006t0026 a0002c0006t0051 a0002c0006t0052 a0002c0026t0024 a0003c0021t0013	a0001c0005t0001g0179 a0001c0005t0001g0183 a0001c0005t0001g0190 others(43): Show a0001c0005t0001g0179 a0001c0005t0001g0183 a0001c0005t0001g0190 a0001c0005t0004g0037 a0001c0005t0004g0153 a0001c0005t0004g0164 a0001c0005t0004g0165 a0001c0005t0004g0166 a0001c0005t0004g0167 a0001c0005t0004g0168 a0001c0005t0004g0180 a0001c0005t0004g0181 a0001c0005t0004g0182 a0001c0005t0004g0184 a0001c0005t0004g0185 a0001c0005t0004g0186 a0001c0005t0004g0193 a0001c0005t0004g0265 a0001c0005t0004g0267 a0001c0005t0004g0272 a0001c0005t0004g0273 a0001c0005t0004g0274 a0001c0005t0004g0280 a0001c0005t0005g0102 a0001c0005t0005g0187 a0001c0005t0005g0188 a0001c0005t0011g0008 a0001c0007t0003g0191 a0001c0007t0003g0192 a0001c0007t0040g0176 a0001c0015t0028g0021 a0001c0015t0046g0385 a0002c0006t0010g0010 a0002c0006t0010g0255 a0002c0006t0010g0256 a0002c0006t0010g0257 a0002c0006t0010g0258 a0002c0006t0024g0263 a0002c0006t0025g0260 a0002c0006t0025g0266 a0002c0006t0026g0261 a0002c0006t0026g0262 a0002c0006t0051g0259 a0002c0006t0052g0264 a0002c0026t0024g0309 a0003c0021t0013g0189	48	404	0.1188	-280	c.594 others(15): Show c.594+453_595-499del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	6/24			chr16	TogoVar
CNN2_chr19_1021608_1044065	1033956	GAGCGTGG others(273): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGG TGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGT GGGTGGGACACGGTGTCTGGTGTAGACGGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG03225.hp1 HG02055.hp2 HG02615.hp1 HG03225.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0020 a0001c0008t0019 a0001c0008t0020	a0001c0008t0019g0173 a0001c0008t0020g0172 a0001c0008t0020g0174 a0001c0008t0019g0173 a0001c0008t0020g0172 a0001c0008t0020g0174	3	390	0.0077	-280	c.390 others(17): Show c.390+1275_390+1554del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034342	GAGCGTGG others(273): Show GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	390	0.0051	-280	c.390 others(17): Show c.390+1679_391-1476del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSMD3_chr8_112217928_113441939	112998136	TGAAATAT others(273): Show TGAAATATAGCCTTGAAGATAGCTATTATTCCTTGAGAATAATTTAAATA AATAATGATTGTTTTAATGAATATTATTCAGTGAACATTTATTTTCCTTT TCCTTCTCATTACCCTGGAAGAATTATCCTTTTATCAAAAACAAACAAGT AAAAAACCAAACATAATCTACCTACTTGCGCTATAAATCACATCCCAGGA CACCTCTGGGTCTTTGTTTCTATCTTATCTTCTTTGCTCGCCTGAACCAT TATTTTCTCTTATTCTATATGGTCATTTCCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0006	1	80	0.0125	-280	c.103 others(21): Show c.1030+20651_1030+20930del	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	6/70			chr8	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(273): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGG	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18965.hp1 NA18950.hp2 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0235 a0001c0002t0001g0230 a0001c0002t0001g0235	2	386	0.0052	-280	c.199 others(17): Show c.199-2204_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931983	AGGAGAGG others(273): Show AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0030 a0002c0001t0030	a0002c0001t0030g0313 a0002c0001t0030g0313	1	386	0.0026	-280	c.198 others(17): Show c.198+1948_198+2227del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932083	AGGAGAGG others(273): Show AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0310 a0001c0002t0008g0310	1	386	0.0026	-280	c.198 others(17): Show c.198+1848_198+2127del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932183	AGGAGAGG others(273): Show AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0274 a0001c0002t0003g0274	1	386	0.0026	-280	c.198 others(17): Show c.198+1748_198+2027del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932241	CGGGGAGA others(273): Show CGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0068 a0002c0001t0068	a0002c0001t0068g0045 a0002c0001t0068g0045	1	386	0.0026	-280	c.198 others(17): Show c.198+1690_198+1969del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DGKB_chr7_14140049_14907751	14211382	TTTTACTC others(273): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0132	1	148	0.0068	-280	c.212 others(21): Show c.2123-33511_2123-33232del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1317862	TTTTAAAA others(273): Show TTTTAAAAATAGAGCGTGTGTGAGTGCAGCGTCTCTCCAACAGTGGTCTA CACTCGAGACACTCGTCAGCGTTTAAAAATAGAGCGTGTGCGAGTGCAGC GTCTCTCCAACAGTGGTCTACACTCGAGAAACTCGGCAGCTTTTAAAAAT AGAGCGTGTGTGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTCGAGAC ACTCGTCAGTGTTTAAAAATAGAGCGTGTGCGAGTGCAGCGTCTCTCCAA CAGTGGTCTACACTCGAGACACTCGTCAGCG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-280	c.106 others(19): Show c.106+59023_106+59302del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642488	ACCCTCGA others(273): Show ACCCTCGAACCCGCCAGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCG ACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCT GTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGC CGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCAC CCTCGAACCCGCCGGCCCTCACCTGTGTCAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	-280	c.181 others(19): Show c.1810+9512_1810+9791del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33009567	TGTGTATA others(273): Show TGTGTATATACACATATGTGTGTATGTGTGTATGTGTATATACACATATG TGTGTATGTGTGTATGTGTATATACACATATGTGTGTATACGTGTATATG TGTATACGTATATGTGTATATGCACATATGTGTGTATACGTATATGTGTA TATGTGTGTATATGTGTATATACACACATATGTGTATATGTGTGTATATG TGTATATACACACATATGTGTATATGTGTGTATATGTGTATATACACACA TATGTGTATATGTGTGTATATGTGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0001 a0021c0035t0001	a0021c0035t0001g0106 a0021c0035t0001g0106	1	126	0.0079	-280	c.93+ others(17): Show c.93+10292_93+10571del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
ESYT2_chr7_158725997_158834509	158803775	CGAGAAGG others(273): Show CGAGAAGGGTGAGGCGCGTGACAAACCCAAACCGTTGAGAAGGGTGAGGC GCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAA ACCACGGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGT GAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAA CCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGA AGGGTGAGGCGCGCGACAAACCCAAACTGTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01175.hp1 others(41): Show HG00558.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02015.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03491.hp2 HG03654.hp1 HG04228.hp1 HG06807.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp2 NA19005.hp1 NA19060.hp1 NA19063.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0016 a0003c0017 others(2): Show a0003c0003 a0003c0016 a0003c0017 a0004c0005 a0004c0018	a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 others(9): Show a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0012 a0003c0003t0019 a0003c0003t0021 a0003c0003t0023 a0003c0003t0026 a0003c0016t0004 a0003c0017t0002 a0004c0005t0001 a0004c0018t0001	a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0017 others(41): Show a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0332 a0003c0003t0004g0333 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0338 a0003c0003t0004g0343 a0003c0003t0004g0345 a0003c0003t0004g0346 a0003c0003t0005g0248 a0003c0003t0005g0286 a0003c0003t0005g0323 a0003c0003t0005g0359 a0003c0003t0005g0360 a0003c0003t0005g0361 a0003c0003t0007g0325 a0003c0003t0007g0327 a0003c0003t0007g0329 a0003c0003t0007g0337 a0003c0003t0012g0321 a0003c0003t0019g0004 a0003c0003t0021g0331 a0003c0003t0023g0330 a0003c0003t0026g0358 a0003c0016t0004g0078 a0003c0017t0002g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 a0004c0005t0001g0348 a0004c0005t0001g0350 a0004c0005t0001g0351 a0004c0005t0001g0352 a0004c0005t0001g0353 a0004c0005t0001g0354 a0004c0005t0001g0355 a0004c0005t0001g0356 a0004c0005t0001g0357 a0004c0005t0001g0362 a0004c0005t0001g0363 a0004c0005t0001g0364 a0004c0018t0001g0349	44	370	0.1189	-280	c.331 others(17): Show c.331-4983_331-4704del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158803880	GGAGAAGG others(273): Show GGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGC GCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAA ACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGT GAGGCGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGGCGCGCGACAAA CCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGA AGGGTGAGGCGCGCGACAAACCCAAACCGTC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0054 a0001c0001t0001g0058	2	370	0.0054	-280	c.331 others(17): Show c.331-5088_331-4809del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXOC2_chr6_480154_698139	601244	ACGAATCC others(273): Show ACGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTC ACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAA CACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGT GCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	272	0.0037	-280	c.743 others(17): Show c.743-2299_743-2020del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FAT1_chr4_186582794_186728856	186626065	CGAGCTTC others(273): Show CGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAAC ATGGCACCTGGCACATAAAGCGAGCTTCATCAGCCTACAGAATGAATGAA TGAATGAATGAGGGACCAACATGGCACCTCGCACATAAACTGAGCTTCAT CAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTG GCACATAAAGTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATG AGGGACCAACATGGCACCTGGCACATAAAGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp2 others(36): Show HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp2 HG01123.hp2 HG01261.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02735.hp1 HG06807.hp1 NA18939.hp2 NA18942.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18990.hp1 NA19000.hp1 NA19004.hp2 NA19062.hp1 NA19068.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp2	a0006 a0012 a0013 others(8): Show a0006 a0012 a0013 a0030 a0032 a0039 a0040 a0050 a0095 a0102 a0123	a0006c0005 a0006c0042 a0012c0014 others(12): Show a0006c0005 a0006c0042 a0012c0014 a0012c0021 a0012c0074 a0013c0006 a0030c0025 a0032c0029 a0039c0033 a0040c0032 a0050c0141 a0050c0143 a0095c0093 a0102c0115 a0123c0142	a0006c0005t0004 a0006c0005t0055 a0006c0042t0004 others(16): Show a0006c0005t0004 a0006c0005t0055 a0006c0042t0004 a0012c0014t0004 a0012c0021t0001 a0012c0021t0018 a0012c0074t0004 a0013c0006t0004 a0013c0006t0008 a0030c0025t0016 a0032c0029t0008 a0039c0033t0002 a0039c0033t0052 a0040c0032t0002 a0050c0141t0012 a0050c0143t0034 a0095c0093t0001 a0102c0115t0002 a0123c0142t0009	a0006c0005t0004g0193 a0006c0005t0004g0197 a0006c0005t0004g0205 others(36): Show a0006c0005t0004g0193 a0006c0005t0004g0197 a0006c0005t0004g0205 a0006c0005t0004g0213 a0006c0005t0004g0224 a0006c0005t0004g0235 a0006c0005t0004g0236 a0006c0005t0004g0246 a0006c0005t0055g0322 a0006c0042t0004g0203 a0006c0042t0004g0204 a0012c0014t0004g0161 a0012c0014t0004g0171 a0012c0014t0004g0271 a0012c0014t0004g0273 a0012c0021t0001g0278 a0012c0021t0018g0170 a0012c0021t0018g0257 a0012c0074t0004g0258 a0013c0006t0004g0182 a0013c0006t0008g0032 a0013c0006t0008g0034 a0013c0006t0008g0037 a0013c0006t0008g0047 a0013c0006t0008g0048 a0013c0006t0008g0053 a0030c0025t0016g0142 a0030c0025t0016g0143 a0032c0029t0008g0044 a0032c0029t0008g0045 a0039c0033t0002g0256 a0039c0033t0052g0288 a0040c0032t0002g0254 a0040c0032t0002g0255 a0050c0141t0012g0138 a0050c0143t0034g0289 a0095c0093t0001g0233 a0102c0115t0002g0199 a0123c0142t0009g0306	39	338	0.1154	-280	c.481 others(19): Show c.4810+1809_4810+2088del	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
FNDC11_chr20_63549159_63561695	63559398	CAGTCAGG others(273): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGG GTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG AGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAG GGTCAGGTGGGAGGAGTCAGGGTCAGGTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-280	c.27 others(11): Show c.2779_*3058del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2704		chr20	TogoVar
FNDC11_chr20_63549159_63561695	63559459	CAGTCAGG others(273): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGG TCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG AGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTC AGGTGGGAGTCAGTCAGGGTCAGGTGGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	416	0.0024	-280	c.28 others(11): Show c.2840_*3119del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2765		chr20	TogoVar
FNDC11_chr20_63549159_63561695	63559527	AGTCAGGT others(273): Show AGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGG GAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCA GAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC GGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAGG GTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGG AGTCAGTCAGAGTCAGGTGGGAGGAGTCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	416	0.0024	-280	c.29 others(11): Show c.2908_*3187del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2833		chr20	TogoVar
GAL3ST2_chr2_241771822_241809287	241807370	AGCTTCCC others(273): Show AGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	314	0.0032	-280	c.32 others(11): Show c.3205_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3084		chr2	TogoVar
GOLGA3_chr12_132763914_132833869	132793238	TGACCCAC others(273): Show TGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACAC AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(21): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00735.hp1 HG01169.hp2 HG02027.hp2 HG02738.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18947.hp2 NA18952.hp2 NA18977.hp1 NA18979.hp2 NA18991.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp1 NA19065.hp2 NA19077.hp1 NA19082.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0003c0008 a0011c0017 a0003c0004 a0003c0008 a0011c0017	a0003c0004t0001 a0003c0004t0007 a0003c0004t0008 others(7): Show a0003c0004t0001 a0003c0004t0007 a0003c0004t0008 a0003c0004t0013 a0003c0004t0022 a0003c0004t0025 a0003c0004t0036 a0003c0008t0007 a0003c0008t0013 a0011c0017t0008	a0003c0004t0001g0270 a0003c0004t0001g0279 a0003c0004t0001g0282 others(21): Show a0003c0004t0001g0270 a0003c0004t0001g0279 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0007g0266 a0003c0004t0007g0269 a0003c0004t0008g0276 a0003c0004t0008g0278 a0003c0004t0008g0285 a0003c0004t0008g0286 a0003c0004t0008g0287 a0003c0004t0008g0288 a0003c0004t0013g0261 a0003c0004t0013g0268 a0003c0004t0013g0284 a0003c0004t0022g0277 a0003c0004t0025g0280 a0003c0004t0036g0260 a0003c0008t0007g0272 a0003c0008t0007g0274 a0003c0008t0007g0275 a0003c0008t0007g0281 a0003c0008t0013g0264 a0011c0017t0008g0267	24	308	0.0779	-280	c.247 others(19): Show c.2470-2225_2470-1946del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
HELZ2_chr20_63553086_63579239	63559398	CAGTCAGG others(273): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGG GTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG AGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAG GGTCAGGTGGGAGGAGTCAGGGTCAGGTCGG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0011 a0019c0029t0011	a0019c0029t0011g0323 a0019c0029t0011g0323	1	390	0.0026	-280	c.782 others(16): Show c.7825+250_7826-29del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63559459	CAGTCAGG others(273): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGG TCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG AGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTC AGGTGGGAGTCAGTCAGGGTCAGGTGGGAGG	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0027 a0011c0028t0027	a0011c0028t0027g0320 a0011c0028t0027g0320	1	390	0.0026	-280	c.782 others(16): Show c.7825+189_7826-90del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63559527	AGTCAGGT others(273): Show AGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGG GAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCA GAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC GGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAGG GTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGG AGTCAGTCAGAGTCAGGTGGGAGGAGTCAGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0040 a0001c0006t0010g0040	1	390	0.0026	-280	c.782 others(17): Show c.7825+121_7826-158del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HIC1_chr17_2050103_2068241	2052377	TGCCTGGG others(273): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 NA18946.hp2 NA18967.hp2 others(5): Show HG02683.hp2 NA18946.hp2 NA18967.hp2 NA18974.hp2 NA18992.hp2 NA19067.hp1 NA19068.hp1 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0004c0013t0064	a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0006g0002 others(1): Show a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0006g0002 a0004c0013t0064g0006	8	414	0.0193	-280	c.-28 others(11): Show c.-2881_-2602del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052787	GGGGGTTA others(273): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00597.hp2 others(32): Show HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG01070.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01952.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp2 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03688.hp2 HG04184.hp2 NA18612.hp2 NA18939.hp2 NA18955.hp1 NA18970.hp1 NA18977.hp2 NA18982.hp2 NA18998.hp2 NA19003.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0049 a0001c0001t0077 a0001c0001t0078 a0001c0001t0085 a0001c0002t0003 a0001c0002t0007 a0001c0002t0027 a0001c0005t0010 a0001c0015t0006 a0002c0003t0021 a0002c0003t0037	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0002 others(17): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0006g0002 a0001c0001t0008g0001 a0001c0001t0011g0002 a0001c0001t0022g0002 a0001c0001t0023g0005 a0001c0001t0049g0005 a0001c0001t0077g0005 a0001c0001t0078g0002 a0001c0001t0085g0002 a0001c0002t0003g0001 a0001c0002t0007g0001 a0001c0002t0027g0001 a0001c0005t0010g0003 a0001c0015t0006g0002 a0002c0003t0021g0004 a0002c0003t0037g0004	35	414	0.0845	-280	c.-24 others(11): Show c.-2471_-2192del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2315		chr17	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	GTGTCACT others(273): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01433.hp2 HG01928.hp2 others(5): Show HG00738.hp1 HG01433.hp2 HG01928.hp2 HG02257.hp1 HG02280.hp2 HG02717.hp1 HG03195.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0040 a0001c0001t0043 others(3): Show a0001c0001t0007 a0001c0001t0040 a0001c0001t0043 a0001c0001t0099 a0001c0001t0193 a0001c0001t0216	a0001c0001t0007g0003 a0001c0001t0040g0241 a0001c0001t0043g0242 others(3): Show a0001c0001t0007g0003 a0001c0001t0040g0241 a0001c0001t0043g0242 a0001c0001t0099g0136 a0001c0001t0193g0190 a0001c0001t0216g0191	8	276	0.0290	-280	c.52 others(9): Show c.523_*802del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	523		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406060	CGTCTTCC others(273): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0228 a0001c0001t0033g0228	1	276	0.0036	-280	c.49 others(9): Show c.494_*773del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	494		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79828703	TTGCGTGT others(273): Show TTGCGTGTGTGTAACATGTCCATGATGTGTGCATGTGTCTGTGTGTGGGT GTCTATGTGTGCGTGTGTGTAACGTGTCTGTGTGTGCATGTGTCTGTGTG TGGGTGTCTATGTGTGCGTGTGTGTAACATGTCCATGATGTGTGCATGTG TCTGTGTGTGGGTGTCTATGTGTGCGTGTATGTAACATGTCCATGATGTG TGCATGTGTCTGTGTGTGTCTATGTGTGCGTGTGTGTAACGTGTCTGTGT GTGCATGTGTCTGTATGTGGGTGTCTATGTG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0281 a0001c0013t0001g0281	1	312	0.0032	-280	c.-11 others(21): Show c.-114-27497_-114-27218del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LSG1_chr3_194635791_194677191	194663356	CCCTTTCC others(273): Show CCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCA GAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCC GCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCT TCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCT TTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGA AAGCCTTTCCCTTCTTCCGCCTCAGAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 HG02717.hp2 HG03540.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0018 a0005c0009t0024 a0005c0009t0018 a0005c0009t0024	a0005c0009t0018g0349 a0005c0009t0024g0348 a0005c0009t0018g0349 a0005c0009t0024g0348	2	408	0.0049	-280	c.521 others(17): Show c.521+1921_521+2200del	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	5/13			chr3	TogoVar
LYRM4_chr6_5103419_5265950	5135038	GCTGTGGA others(273): Show GCTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGGTTCACT CCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGG ATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGG GTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTG TGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCTG GGGCTGTGGAGGGTGCGGTTCACTCCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03710.hp2 HG03471.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0077 a0002c0002t0003g0259 a0001c0001t0001g0077 a0002c0002t0003g0259	2	286	0.0070	-280	c.208 others(19): Show c.208-25827_208-25548del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(273): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp2 HG04115.hp1 HG01243.hp1 HG03195.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0141 a0001c0001t0001g0246 a0001c0004t0001g0099 a0001c0001t0001g0141 a0001c0001t0001g0246 a0001c0004t0001g0099	3	264	0.0114	-280	c.141 others(21): Show c.1416+10500_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
NEU4_chr2_241804193_241822413	241807370	AGCTTCCC others(273): Show AGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-280	c.-19 others(11): Show c.-1907_-1628del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1822		chr2	TogoVar
NLRP4_chr19_55831540_55886855	55850272	AGGCTGCG others(273): Show AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATTTCCG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCG AGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0412 a0001c0005t0003g0412	1	424	0.0024	-280	c.-65 others(17): Show c.-65-1709_-65-1430del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOS1AP_chr1_162064691_162375475	162261155	GTAAATCT others(273): Show GTAAATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAA AATTTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTC AAAATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTT GTTCTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGC AGATTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCT GCATTATCCAGGTGGGCTCAATCTAATCACA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	182	0.0055	-280	c.178 others(19): Show c.178-26188_178-25909del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NTAN1_chr16_15032857_15061074	15049744	GCAAAAAG others(273): Show GCAAAAAGCTGGGAGCAGCAATGGAAAAGGTAAGTAAATTGGGCACAGAA CCAAGTCACAGCCACTAACTGCACAGTCATGAGAAATGAAAACTATGGGA AAAAGAGTTTTGAAATGCTAATTGAAAAGCAAGATACAAAAGTATAAAAA ATGTTTTAAAGAGCTATAAATGTGCCATAATACAACAATGATTAAATGCT TATACCCATAGAGAAAAATACTGGAAGGAAATTTCACCAGTACAACCATG GCTGTGCCAAAAAAGCAAACATGAGTGATTT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	453	0.0022	-280	c.82- others(15): Show c.82-1925_82-1646del	NTAN1	ENSG00000157045.9	transcript	ENST00000287706.8	protein_coding	1/9			chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82386084	GGGCTGTC others(273): Show GGGCTGTCTCTGTCCCAGGCTCTCCTCCCCCATCCTGCCTCCGCCTTCCC CGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCTCT GTCCTCCCTCCGCCTTCCCCTGGCCTCTAGTGATGGGGAGTGGCTGTCTC TGTCCCAGGCTCTCCTCTCTGTCCTCCCTCCGTCTTCCCCTGGCCTCCAG TGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCCCCGTCCTCCCTC CGCCTTCCCCTGGCCTGTAGTGATGGGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0035 a0001c0019t0035	a0001c0019t0035g0163 a0001c0019t0035g0163	1	348	0.0029	-280	c.60 others(11): Show c.6034_*6313del	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		3125		chr17	TogoVar
PDGFC_chr4_156755454_156976799	156759610	GGTCAATG others(273): Show GGTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACCACGTT CAATGCGCCTGGAGACAGGGATGCACCGAGGGTAACCAAACCACGGTCAA TGCACCTGGAGACAGGGATACACCGAGGGTAACCAAACCATAGTCAATGC ACCTGGAGACAGGGATGCACCGAGGGTAACCAAACCATGGTCAATGCACC TGGAGACAGGGATGCACCGAGGGACCAAACCACGGTCAATGCACCTAGAG ACAGGGATACACCGAGGGTAACCAAACCATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02897.hp1 others(1): Show HG02280.hp2 HG02717.hp2 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0119 a0001c0001t0008g0121 a0001c0001t0008g0163 others(1): Show a0001c0001t0008g0119 a0001c0001t0008g0121 a0001c0001t0008g0163 a0001c0001t0008g0171	4	208	0.0192	-280	c.32 others(11): Show c.3200_*3479del	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		843		chr4	TogoVar

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Search Results (Total: 10000 hits)