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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EHMT1_chr9_137614005_137841127	137780969	CGTGTGGT others(341): Show CGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCCGGGATGTGTGGT GATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGC CGGGATGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTGAGATGT GTGGTGATGACGGCATCACTGAGACGTGTGGTGATGACGCTGAGACGTGT GGTGATGACGCTGGGACGTGTGGTGACGACGCTGAGACGTGTGGTGACGA CGCTGGGACGTGTGGTGACGACGCTGGGACGTGTGGTGACGACGCTGGGA CGTGTGGTGATGACGCTGAGATGTGTGGTGATGACGGCATCACTGAGAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0072 a0001c0005t0001g0072	1	170	0.0059	-348	c.227 others(18): Show c.2275+1270_2276-957del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	671080	AGCCCCGG others(341): Show AGCCCCGGCTCTAATGTCTGTGCTCACTGGTCCCCAGGCTCCGACCTCTG AACGTGCCAGCCCCGGTTCTAATGTCTGTGCTCACTGGGCTCCAGGCTCC GACCTCTGAACCTGCCGGCCCTGGCTGTAATGTCTGTGCCCACTGGTCCC CAGGCTCTGACCTCTGAACCCGCTGGCCCCTGCTCCGACCACTGAGCGCG CTGGTCCCCAGGCTCCGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTC TGCGCTCACTGGGCTCCAGGCTGAGACCTCTGAACCTGCCGGCCCCGGCT CTAATGTCTGTGCTCACTGGGCTCCAGGCTGAGACCTCTGAACCTGCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0218 a0001c0003t0001g0218	1	378	0.0027	-348	c.106 others(19): Show c.1063+1861_1063+2208del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5						chr8	TogoVar
FLRT1_chr11_64030931_64124171	64086327	GTGTGCAG others(341): Show GTGTGCAGTTCTAAGACCTGTGAATCTTACATATGCATATGGTGCCCTTG TGACTACCCCCGAGCTCAGAGGATGGAACATTCCCTCCCCACCCCCAGCT TTCTACTCTCCAGTCCAAACCTGTCCCTCTGCTCTCCCCATGCCCTCAGG AGGAAGTCCAGGCCCTTCCCTGAGGTCCCCTAGCTGACCGCCCTGCCCCA GGCTGAGTTGTCTCAGGACAGCCACAAAGCCAGCCTTCCTCCTGCCTCCG GGCCTTTGCACAGCGGTTCTGCGACTGGGGTGCTTTTTCCGGCCCCTGCA GCCCCACTTCTGTCTGAGACTCCTATTCATGCTCCAGGGACTCACATCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0033 a0001c0007t0008g0033	1	300	0.0033	-348	c.-10 others(23): Show c.-1037-16862_-1037-16515del		FLRT1	ENSG00000126500.4	transcript	ENST00000682287.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
FLT4_chr5_180596506_180654600	180635054	ATGGATGG others(341): Show ATGGATGGATGGAAGTATGGGTGGGAGGGTGGGTGGATGGATGGATGGAT GGAAGTATGGGTGGAGGGGTGGGTGGATGGATGCATGGATGGATGGAAGG GTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGAT GGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGG AAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGT GGATGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGAGG GTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGATGGGAGGGTGGG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0031 a0002c0004t0031	a0002c0004t0031g0279 a0002c0004t0031g0279	1	388	0.0026	-348	c.59- others(15): Show c.59-3624_59-3277del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
FOXN3_chr14_89151177_89422233	89362248	TCCAGCAC others(341): Show TCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCAC CACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCA CCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCC AGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAG CACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCA TCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCC ACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	230	0.0044	-348	c.544 others(19): Show c.544-11788_544-11441del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
ILRUN_chr6_34582288_34701767	34686515	AGACTTCT others(341): Show AGACTTCTTACAACTGAACAACAAAAAGACAACCCAATTTAAAAATGGGC AAAGCCTTTTTGCGCTGACAGTGCTCCAGCAAACATAATGAACATTCCTA AAAGCCACCAGACTTTCTATAAGAAGTATGGCAAACACCAACCCCACAAA GTGATACAGTATAAGAAAGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18946.hp2 NA18949.hp1 others(4): Show HG02155.hp1 NA18946.hp2 NA18949.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0052	7	316	0.0222	-348	c.158 others(17): Show c.158+9583_158+9930del		ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4						chr6	TogoVar
ITGB5_chr3_124756948_124892365	124789381	ACAGAACC others(341): Show ACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0247 a0001c0001t0015g0247	1	352	0.0028	-348	c.169 others(19): Show c.1693+6659_1693+7006del		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14						chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789729	TCAGAACC others(341): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 homoSapiens_chm13v2.hp1 HG02896.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0006 a0005c0010t0004 a0001c0001t0006 a0005c0010t0004	a0001c0001t0006g0067 a0005c0010t0004g0349 a0001c0001t0006g0067 a0005c0010t0004g0349	2	352	0.0057	-348	c.169 others(19): Show c.1693+6311_1693+6658del		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14						chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789903	TCAGAACC others(341): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTAACAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp1 others(55): Show HG00408.hp1 HG00423.hp2 HG00609.hp1 HG01496.hp1 HG01978.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02165.hp1 HG02451.hp2 HG02602.hp2 HG02976.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0001c0023 others(2): Show a0001c0001 a0001c0007 a0001c0023 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0007t0001 a0001c0007t0007 others(4): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0007 a0001c0023t0001 a0002c0003t0001 a0004c0005t0002 a0004c0005t0011	a0001c0001t0001g0090 a0001c0007t0001g0210 a0001c0007t0001g0212 others(55): Show a0001c0001t0001g0090 a0001c0007t0001g0210 a0001c0007t0001g0212 a0001c0007t0001g0214 a0001c0007t0001g0215 a0001c0007t0001g0216 a0001c0007t0007g0004 a0001c0007t0007g0006 a0001c0023t0001g0208 a0002c0003t0001g0055 a0002c0003t0001g0065 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0118 a0002c0003t0001g0143 a0002c0003t0001g0158 a0002c0003t0001g0166 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0196 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0200 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0225 a0002c0003t0001g0261 a0002c0003t0001g0324 a0004c0005t0002g0194 a0004c0005t0002g0195 a0004c0005t0002g0332 a0004c0005t0002g0333 a0004c0005t0002g0335 a0004c0005t0002g0336 a0004c0005t0002g0337 a0004c0005t0002g0340 a0004c0005t0002g0341 a0004c0005t0002g0342 a0004c0005t0011g0345 a0004c0005t0011g0346	58	352	0.1648	-348	c.169 others(19): Show c.1693+6137_1693+6484del		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14						chr3	TogoVar
ITGB5_chr3_124756948_124892365	124790060	CTGACTAG others(341): Show CTGACTAGACAGGGTTAACAGAACCGCCTCTGACTAGACAGGGTTATCAG AACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGG GTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGAC TAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAACAGAACCG CCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAT CAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGAC AGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18941.hp2 NA18966.hp2 others(5): Show HG00597.hp1 NA18941.hp2 NA18966.hp2 NA18974.hp1 NA18989.hp1 NA19077.hp1 NA19083.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0252 a0001c0002t0003g0262 a0001c0002t0003g0263 others(5): Show a0001c0002t0003g0252 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0275 a0001c0002t0003g0286 a0001c0002t0003g0295 a0001c0002t0003g0296	8	352	0.0227	-348	c.169 others(19): Show c.1693+5980_1693+6327del		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14						chr3	TogoVar
KDM4B_chr19_4964113_5158598	5076234	CGTGCTCT others(341): Show CGTGCTCTCTCGTTGACCGAGTGACGAGAGCGGCCACACTGCATCCTTTC CCCAGGGTCGTGCTCTCTCGTTGACTGAGTGACGAGAGCGGCCACACTGC ATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGACGAGAGCGGC CACACTGCATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGACG AGAGCGGCCACACTGCGTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACT GAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCAGGGTCGTGCTCTCT CGTTGACCGAGTGATGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03130.hp2 HG03471.hp2 HG01109.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0022g0063 a0001c0001t0006g0062 a0001c0001t0006g0064 a0001c0001t0022g0063	3	270	0.0111	-348	c.677 others(16): Show c.677-1059_677-712del		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5076445	ACTGCGTC others(341): Show ACTGCGTCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACTGAGTGACGAGA GCGGCCACACTGCATCCTTTCCCCAGGGTCGTGCTCTCTCGTTGACCGAG TGATGAGAGCGGCCACACTGCGTCCTTTCCCCAGGGTTGTGCTCTCTCGT TGACCGAGTGACGAGAGCGGCCACACTGCATCCTTTCCCCAGGGTCGTGC TCTCTCGTTGAATGAGTGATGAGAGCGGCCACACTGCGTCCTTTCCCCAG GGTTGTGCTCTCTCGTTGACCGAGTGACGAGGGCGGCCACCCTGTGTCCT TTCCCCAGGGTCGTGTTGTCTCGTTGACCGAGTGACGAGAGCGGCCACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0104 a0002c0005t0002g0104	1	270	0.0037	-348	c.677 others(15): Show c.677-900_677-553del		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
MACROD1_chr11_63993558_64171113	64086327	GTGTGCAG others(341): Show GTGTGCAGTTCTAAGACCTGTGAATCTTACATATGCATATGGTGCCCTTG TGACTACCCCCGAGCTCAGAGGATGGAACATTCCCTCCCCACCCCCAGCT TTCTACTCTCCAGTCCAAACCTGTCCCTCTGCTCTCCCCATGCCCTCAGG AGGAAGTCCAGGCCCTTCCCTGAGGTCCCCTAGCTGACCGCCCTGCCCCA GGCTGAGTTGTCTCAGGACAGCCACAAAGCCAGCCTTCCTCCTGCCTCCG GGCCTTTGCACAGCGGTTCTGCGACTGGGGTGCTTTTTCCGGCCCCTGCA GCCCCACTTCTGTCTGAGACTCCTATTCATGCTCCAGGGACTCACATCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	198	0.0051	-348	c.517 others(19): Show c.517+64564_517+64911del		MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	3/10						chr11	TogoVar
PERM1_chr1_970198_987093	976772	CCCCCCGC others(341): Show CCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGG AACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCC CCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACC GCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0055 a0003c0003t0004g0055	1	408	0.0025	-348	c.215 others(17): Show c.2150-496_2150-149del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PIK3R5_chr17_8873916_8970707	8925194	AAGTAGAT others(341): Show AAGTAGATGGATAGATAGATAGATAGTAGATGGATAGATAGATAGTAGAT GGGTAGATAGATAGATGGTTAGCTAGTAGATGATAGATAGTAGATGGATA GATAGATAGATAGTAGATGGATAGATAGTAGATGGATAGACAGTAGATTG ATAGATAGATGGATTGATAGATAGTAGATGGATAGATAGATAGATAGTAG ATGGAGAGATAGTAGATGGATAGGTAGATAGTAGATGGAGAGATAGATAG TAGATGGATAGATAGTAGATGGATGATAGATAGATAGTAGATGGATAGAT AGTAGATGGATAGATAGTAGATGGATAGATAGATAGATAGTAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0259 a0001c0004t0001g0265 a0001c0004t0001g0259 a0001c0004t0001g0265	2	298	0.0067	-348	c.-13 others(19): Show c.-13-14035_-13-13688del		PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	1/18						chr17	TogoVar
PLEKHN1_chr1_961482_980865	976772	CCCCCCGC others(341): Show CCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGG AACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCC CCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACC GCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0004 a0008c0016t0004	a0008c0016t0004g0014 a0008c0016t0004g0014	1	422	0.0024	-348	c.21 others(11): Show c.2198_*2545del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					908		chr1	TogoVar
RBM44_chr2_237793779_237847805	237837656	GAAAGTGC others(341): Show GAAAGTGCTCTCTTTTTTTATTATTTGTTATTTTTGTAGAGATGGGATCT TGTTATTTTTCCCAGGCTGGTCTCAAACTTCTGGCCTCAAGCAATTCTCC CACTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGCCCA GCCCAGAAAATGCTTTCTTGAGATGCAGTCTACTACTGGTGAACATGCTG TGAACATTGTTGAAATAACAACAGAGGATTTGGAATAGTACATAAACTTA GGTGACAAAGCAGTGGCAAAGTTTGAGGGTGTTTAAAAAAAAGTTTAAGG AAATTGACTCCAATTTTGAAAGAAGTCCTTCTCTGGGTAAAATGCTATC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp2 HG03710.hp2 HG01261.hp2 HG01934.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242	3	378	0.0079	-348	c.22 others(17): Show c.22+3235_*22+3582del		RBM44	ENSG00000177483.12	transcript	ENST00000316997.9	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SDHA_chr5_213320_262082	258613	AGAGCATT others(341): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAG CTCCGCCTCCTGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCC GCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAGCTCCGCCCCCTGCCAGAGCATTACTGTGAGCTCCTTCTCC TCTCAGAGCCTTGCCGTGAGCTCCGCCCTCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG04115.hp1 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0072 a0001c0001t0005g0073 a0001c0001t0002g0072 a0001c0001t0005g0073	2	266	0.0075	-348	c.21 others(11): Show c.2194_*2541del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					1532		chr5	TogoVar
SDHA_chr5_213320_262082	259297	AGCTCCGC others(341): Show AGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAG AGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCA TTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGC CTCCTGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCC CGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG04115.hp1 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0072 a0001c0001t0005g0073 a0001c0001t0002g0072 a0001c0001t0005g0073	2	266	0.0075	-348	c.28 others(11): Show c.2878_*3225del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					2216		chr5	TogoVar
SGSM2_chr17_2332501_2386054	2356477	GTTGGGGG others(341): Show GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA TTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02071.hp1 HG00280.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0370 a0001c0020t0001g0286 a0001c0001t0001g0370 a0001c0020t0001g0286	2	422	0.0047	-348	c.134 others(17): Show c.134-5153_134-4806del		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	431772	CAGATAGA others(341): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01981.hp1 HG01981.hp2 others(1): Show HG01358.hp2 HG01981.hp1 HG01981.hp2 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0001 a0002c0004t0004 a0001c0001t0004 a0002c0004t0001 a0002c0004t0004	a0001c0001t0004g0159 a0001c0001t0004g0161 a0002c0004t0001g0192 others(1): Show a0001c0001t0004g0159 a0001c0001t0004g0161 a0002c0004t0001g0192 a0002c0004t0004g0191	4	212	0.0189	-348	c.111 others(19): Show c.1111-1373_1111-1026del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SHC2_chr19_411589_466033	432978	CGGGCAGA others(341): Show CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCAGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0168	1	212	0.0047	-348	c.111 others(19): Show c.1110+1383_1110+1730del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SORCS2_chr4_7187538_7747827	7441743	CCAGCCCA others(341): Show CCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCAC CCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCA CCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGC CCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCT CCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTC CACCTCCTCTCACAGCCCAGGTCACCATCCACCCCCTCCCCCAGCCCAGA TCACCCTCCATCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG01109.hp1 others(22): Show HG00438.hp2 HG00733.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03942.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0036 a0001c0048 a0001c0051 a0002c0004 a0003c0035 a0003c0042 a0004c0007 a0005c0008 a0006c0021 a0006c0022	a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 others(21): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0069 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0054 a0001c0002t0061 a0001c0003t0008 a0001c0003t0022 a0001c0036t0044 a0001c0048t0001 a0001c0051t0001 a0002c0004t0014 a0002c0004t0024 a0003c0035t0007 a0003c0042t0003 a0004c0007t0001 a0005c0008t0001 a0005c0008t0013 a0006c0021t0070 a0006c0022t0039	a0001c0001t0003g0048 a0001c0001t0012g0036 a0001c0001t0012g0047 others(22): Show a0001c0001t0003g0048 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0017g0003 a0001c0001t0020g0052 a0001c0001t0069g0092 a0001c0002t0001g0123 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0002t0054g0050 a0001c0002t0061g0121 a0001c0003t0008g0135 a0001c0003t0022g0043 a0001c0036t0044g0022 a0001c0048t0001g0146 a0001c0051t0001g0068 a0002c0004t0014g0083 a0002c0004t0024g0114 a0003c0035t0007g0075 a0003c0042t0003g0066 a0004c0007t0001g0026 a0005c0008t0001g0006 a0005c0008t0013g0155 a0006c0021t0070g0103 a0006c0022t0039g0153	25	168	0.1488	-348	c.548 others(19): Show c.548+45455_548+45802del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
TAX1BP1_chr7_27735162_27834767	27743756	TTAGTATC others(341): Show TTAGTATCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.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 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.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 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.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 HG02976.hp1 HG02976.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 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0003c0004 a0004c0009 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0003t0002 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0003c0004t0007 a0003c0004t0010 a0004c0009t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(332): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0136 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0339 a0001c0001t0003g0033 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0105 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0005g0005 a0001c0001t0005g0053 a0001c0001t0005g0158 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0218 a0001c0001t0007g0107 a0001c0001t0007g0276 a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0009g0012 a0001c0001t0009g0206 a0001c0001t0009g0208 a0001c0001t0011g0217 a0001c0001t0011g0303 a0001c0001t0012g0213 a0001c0003t0002g0313 a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0330 a0001c0005t0001g0116 a0001c0005t0001g0305 a0001c0005t0001g0306 a0001c0006t0002g0016 a0001c0007t0001g0001 a0001c0008t0001g0025 a0003c0004t0007g0222 a0003c0004t0010g0219 a0003c0004t0010g0220 a0003c0004t0010g0221 a0004c0009t0001g0069 a0005c0010t0001g0130	355	362	0.9807	-348	c.-8+ others(15): Show c.-8+3505_-8+3852del		TAX1BP1	ENSG00000106052.14	transcript	ENST00000396319.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(341): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCATGGACCTGGGG ATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02055.hp1 HG02056.hp2 HG02109.hp1 others(1): Show HG02055.hp1 HG02056.hp2 HG02109.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0020 a0002c0002 a0002c0007 a0002c0020	a0002c0002t0023 a0002c0007t0044 a0002c0020t0001 a0002c0002t0023 a0002c0007t0044 a0002c0020t0001	a0002c0002t0023g0271 a0002c0002t0023g0291 a0002c0007t0044g0109 others(1): Show a0002c0002t0023g0271 a0002c0002t0023g0291 a0002c0007t0044g0109 a0002c0020t0001g0035	4	322	0.0124	-348	c.735 others(11): Show c.735-316_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733			chr16	TogoVar
UNKL_chr16_1358205_1419704	1397377	GTGGACCT others(341): Show GTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCC CTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGA TGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCCCCCACCCCGACCC CCGTGCTTCACGCTGGGGCAGGGCATGGACCTGGGGATGAGGAGGTGTCA GGGGGACACAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGC TGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAG GACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02004.hp2 HG02083.hp1 others(6): Show HG01515.hp1 HG02004.hp2 HG02083.hp1 HG02145.hp1 HG02683.hp2 HG02735.hp2 HG04204.hp2 HG04228.hp2 NA18999.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0010c0025	a0001c0001t0001 a0001c0001t0058 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0058 a0001c0004t0001 a0003c0005t0003 a0010c0025t0003	a0001c0001t0001g0031 a0001c0001t0058g0227 a0001c0004t0001g0137 others(6): Show a0001c0001t0001g0031 a0001c0001t0058g0227 a0001c0004t0001g0137 a0003c0005t0003g0176 a0003c0005t0003g0214 a0003c0005t0003g0215 a0003c0005t0003g0216 a0003c0005t0003g0218 a0010c0025t0003g0217	9	322	0.0280	-348	c.735 others(14): Show c.735-430_735-83del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
ZNF511_chr10_133303914_133318161	133317405	GGACACAG others(341): Show GGACACAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACAGAGAT GGAAAGACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGACCACA CCCCCCACACACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAG ATGGAAAGACCACACACCCCCCCCAGACACAGAGATGGAAAGACCACACC TCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCAGACAC AGAGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACC ACACCCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-348	c.45 others(11): Show c.4540_*4887del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4245		chr10	TogoVar
ZNF559_chr19_9319179_9350871	9325172	AGGTGGCT others(341): Show AGGTGGCTCACACCTGTAATCCCAGCGTTTTGGGAGGCTGAGGCTGGAGG ATCGCTTGAGCCCAGGAATTTGATGCCAACCTGGAAAAAATAGGGCAAGC CTCTGTCTCTACTAAAAATAAAAAATTAGCTGGGCATGGTGGTGTCTGTG GTCCCATCCACTTTGGAGGCCGAGATGCGAGGATCACTTGAGCATGGGAG GTCGAGGCTGCTGTGAGCCATTATTGTGTCACTGCATTCCAGCTTAGGCA ACAGAGTGAGACCCTGTTTCAAAAAGAAGAAAAAAAAACAAATACTGATC TAGAGAACATCTGTAGCTCGAGTAAAACAAATGTCTTTAGTCCAGGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0260 a0001c0001t0018g0260	1	394	0.0025	-348	c.-12 others(17): Show c.-120+403_-120+750del		ZNF559	ENSG00000188321.14	transcript	ENST00000603380.6	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289676	AGTCTCTG others(340): Show AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0216 a0003c0004t0001g0216	1	295	0.0034	-347	c.35 others(11): Show c.3541_*3887del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2714		chr1	TogoVar
C2CD4C_chr19_400445_414147	404065	GGGGACGG others(340): Show GGGGACGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGT CCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTG TGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCC TGCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA19079.hp1 HG00673.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	322	0.0062	-347	c.26 others(11): Show c.2684_*3030del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1379		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920172	CCTGGTAT others(340): Show CCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCC AGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTC CCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGT TGCCCCAGGTCTGGTCATTGGTGGAGTTTCCCCAGGTCTGGTCATTGGTG GAGTTGCCTCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATT GGTGGACTTGCCCCAGGCCGGTCATTGGTGGAGTCGTCCCCAGGTCTGGT CATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02615.hp2 HG01109.hp1 HG02145.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0002g0015 a0001c0001t0006g0020 a0001c0002t0002g0019 a0001c0001t0002g0015 a0001c0001t0006g0020 a0001c0002t0002g0019	3	364	0.0082	-347	c.424 others(17): Show c.424+4673_424+5019del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CLIC4_chr1_24740447_24849321	24800014	GCCCGGCC others(340): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTG CCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGG GGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18986.hp2 NA18970.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0342 a0001c0001t0001g0024 a0001c0001t0001g0342	2	344	0.0058	-347	c.182 others(17): Show c.182+2211_182+2557del		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89587728	CACCCACA others(340): Show CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0008 a0002c0010t0008	a0002c0010t0008g0127 a0002c0010t0008g0127	1	348	0.0029	-347	c.927 others(15): Show c.927+657_928-570del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX51_chr12_132131594_132149319	132135709	TCCCCGAG others(340): Show TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA18906.hp2 HG03471.hp1 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0018 a0004c0012t0013g0018	2	334	0.0060	-347	c.32 others(11): Show c.3216_*3562del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					884		chr12	TogoVar
ERICH1_chr8_659200_736224	671370	GGCCCCGG others(340): Show GGCCCCGGCTCTAATGTCTGTGCTCACTGGGCTCCAGGCTGAGACCTCTG AACCTGCCGGCCCCGGCTCTAATGTCTGTGCTCACTGGTCCCCAGGCTCC GACCTCTGAACGTGCCAGCCCCGGTTCTAATGTCTGTGCTCACTGGGCTC CAGGCTCCGACCTCTGAACCTGCCGGCCCTGGCTGTAATGTCTGTGCCCA CTGGTCCCCAGGCTCTGACCTCTGAACCCGCTGGCCCCTGCTCCGACCAC TGAGCGCACTGGTCCCCAGGCTCCGACCTCTGAACCTGCCGGCCCCGGCC CTAATGTCTGTGCTCACTGGGCTCCAGGCTGCGACCTCTGAACCTGCC	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	378	0.0027	-347	c.106 others(19): Show c.1063+1572_1063+1918del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5						chr8	TogoVar
FAM120B_chr6_170301758_170412067	170398620	GAGTGAGT others(340): Show GAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGG GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAAC TATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTACGTCATAAG CCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGG TAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCA TAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTA	G G	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	289	0.0035	-347	c.269 others(19): Show c.2692+3042_2692+3388del		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10						chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805214	TCCCCCTC others(340): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	314	0.0032	-347	c.10 others(11): Show c.1049_*1395del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					928		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1365602	GGGTGAGC others(340): Show GGGTGAGCGGGGTGAGCCGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTG AGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGC GCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCCGG GTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAG CGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGG TGCGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	115	0.0087	-347	c.874 others(15): Show c.874+355_874+701del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IRS4_chrX_108714946_108741563	108726701	AATTATAT others(340): Show AATTATATAAATTGTCAAAACTAGCTAAAGTGACTACAATATATAGGGAA TTAGATATTCGGTAAATCCAGAAGGTGTGGCTGGCATCAAACATATTGTG ATCAATCCAACCATGAAAATAGCTTTAAACACCGGCCCAGCTGCTTCTGT GCCAAGTGACAGTAGGGCAGGCAGCACAGCCTTGGATCTGTACAACAAGG ATCCCTACAAGGAAGGTTGCCTCTGCAAGCTAAGTGCAAGAAGGCTGTGT ACTGGGAGTGATCAACATCTGGCGAAGCCCTCTATGGGCCCTGCAGGACT CCCACAGTGGCCCTCACCTTTTCAGCCAGAGAGAGACCAGGAAAGGGC	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	308	0.0033	-347	c.376 others(19): Show c.3767-4525_3767-4179del		IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/1						chrX	TogoVar
LRRTM4_chr2_76742685_77527376	77307647	TCTATATA others(340): Show TCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATAGA AATATAAATATATAGATATACCTATATATTATAGAAATATAAATATATAG ATATACCTATATATTATAGAAATATAAATATATAGATATACCTATATATT ATAGAAATATAAATATATAGATATATCTATATATTATAGAAATATAAATA TATAGATATATCTATATATTATAGAAATATAAATATATAGATATATCTAT ATATTATAGAAATATAAATATATAGATATATCTATATATTATAGAAATAT AAATATATAGATATATCTATATATTATAGAAATATAAATATATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02109.hp2 others(2): Show HG01109.hp1 HG01884.hp2 HG02109.hp2 HG02717.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0124 a0001c0001t0002g0105 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0124 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0127	5	128	0.0391	-347	c.155 others(23): Show c.1551+210324_1551+210670del		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7054128	TTATATAT others(340): Show TTATATATTATATATAATATAGTTATGTATAATTATATATTATATAATAT AATATATATTATATTATATAATTAATATATATAATTATATATAATAATTA GATACCTATATATTATATAATTATATTATATAATTAATAAATATATTACA TATAATTATATAAATATAATATATAAATATAATTATAATACATAATATAT ATAATTATATAATATATAAATTATATTTTAATATATATAATTATATAATA TACAAATTATAATTTAATATATAATATGTATAATTATATACTATATAAAT TATATTATAATTTATAATATAATTATATAACATATAAATTATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	288	0.0035	-347	c.18 others(11): Show c.1847_*2193del		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					2078		chr19	TogoVar
MBP_chr18_76973833_77137783	77036237	AGAGCTGA others(340): Show AGAGCTGAGCAAGTGCTGGTCACATTTTGGAGGACTGAGCTGAGCAAGTG CTGGTCACATTTTGGAGGACTGAGCTGAGCAAGTGCTGGTCACATTTTGG AGACTGAGCTGAGCAAGTGCTGGTCACATTTTGGAGACAGAACTGAGCAA GTGCTGCTCACGTTTCAGAGGACTGAGCTGAGCAAGTGCTGGTCACATTT TGGAGGACTGAGCTGAGCAAGTGCTGGTCACATTTTGGAGGACTGAGCTG AGCAAGTGCTGGTCACATTTTGGAGACTGAGCTGAGCAAGTGCTGGTCAC ATTTTGGAGGACTGAGCTGAGCAAGTGCTGGTCACATTTTGGAGGACT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02818.hp2 others(7): Show HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03540.hp2 NA18522.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0011 a0001c0002t0012 a0001c0002t0020	a0001c0001t0001g0159 a0001c0001t0003g0114 a0001c0001t0017g0008 others(7): Show a0001c0001t0001g0159 a0001c0001t0003g0114 a0001c0001t0017g0008 a0001c0001t0017g0009 a0001c0001t0017g0166 a0001c0002t0011g0129 a0001c0002t0012g0012 a0001c0002t0012g0160 a0001c0002t0020g0231 a0001c0002t0020g0244	10	396	0.0253	-347	c.140 others(19): Show c.140-19316_140-18970del		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085560	CTGCGTGG others(340): Show CTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02258.hp1 HG02258.hp2 others(5): Show HG01123.hp1 HG02258.hp1 HG02258.hp2 HG02922.hp1 HG02965.hp1 HG03579.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0011 a0013 a0053	a0001c0038 a0002c0006 a0002c0041 others(4): Show a0001c0038 a0002c0006 a0002c0041 a0010c0056 a0011c0184 a0013c0080 a0053c0185	a0001c0038t0001 a0002c0006t0001 a0002c0041t0001 others(4): Show a0001c0038t0001 a0002c0006t0001 a0002c0041t0001 a0010c0056t0001 a0011c0184t0001 a0013c0080t0001 a0053c0185t0001	a0001c0038t0001g0076 a0002c0006t0001g0085 a0002c0006t0001g0395 others(5): Show a0001c0038t0001g0076 a0002c0006t0001g0085 a0002c0006t0001g0395 a0002c0041t0001g0394 a0010c0056t0001g0089 a0011c0184t0001g0055 a0013c0080t0001g0387 a0053c0185t0001g0067	8	403	0.0199	-347	c.164 others(17): Show c.1644+173_1644+519del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241805214	TCCCCCTC others(340): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0001 a0009c0010t0001g0001	1	319	0.0031	-347	c.-40 others(11): Show c.-4063_-3717del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807101	TCCCTCCC others(340): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCG GGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	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	-347	c.-21 others(11): Show c.-2176_-1830del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2091		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149668	CCACACCC others(340): Show CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18612.hp1 NA20300.hp2 HG03041.hp2 NA18612.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0001 a0001c0005t0001 a0002c0002t0001	a0001c0005t0001g0206 a0002c0002t0001g0088 a0002c0002t0001g0239 a0001c0005t0001g0206 a0002c0002t0001g0088 a0002c0002t0001g0239	3	294	0.0102	-347	c.901 others(15): Show c.901+801_902-939del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149930	TACCACAC others(340): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0191 a0002c0016t0001g0191	1	294	0.0034	-347	c.902 others(16): Show c.902-1012_902-666del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
PHF21A_chr11_45924319_46126454	46014684	TAATAGTT others(340): Show TAATAGTTATTCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAATAAAAATAAAAAAATAAAAAAAAATAAAAAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(185): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(52): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013 a0002c0002t0016 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0031 a0002c0002t0037 a0002c0002t0039 a0002c0002t0047	a0001c0001t0002g0021 a0001c0001t0002g0052 a0001c0001t0002g0057 others(185): Show a0001c0001t0002g0021 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0003g0107 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0178 a0001c0001t0003g0237 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0226 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0006g0120 a0001c0001t0006g0134 a0001c0001t0007g0008 a0001c0001t0008g0019 a0001c0001t0008g0032 a0001c0001t0008g0058 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0009g0086 a0001c0001t0009g0088 a0001c0001t0010g0084 a0001c0001t0010g0085 a0001c0001t0010g0087 a0001c0001t0010g0089 a0001c0001t0010g0092 a0001c0001t0011g0170 a0001c0001t0011g0171 a0001c0001t0011g0222 a0001c0001t0011g0223 a0001c0001t0011g0225 a0001c0001t0012g0253 a0001c0001t0012g0260 a0001c0001t0012g0261 a0001c0001t0012g0262 a0001c0001t0014g0108 a0001c0001t0014g0109 a0001c0001t0014g0110 a0001c0001t0015g0270 a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0017g0035 a0001c0001t0017g0050 a0001c0001t0018g0096 a0001c0001t0018g0097 a0001c0001t0019g0172 a0001c0001t0019g0173 a0001c0001t0022g0191 a0001c0001t0022g0199 a0001c0001t0024g0277 a0001c0001t0024g0278 a0001c0001t0027g0004 a0001c0001t0030g0005 a0001c0001t0034g0082 a0001c0001t0035g0083 a0001c0001t0036g0056 a0001c0001t0038g0059 a0001c0001t0040g0025 a0001c0001t0041g0063 a0001c0001t0043g0124 a0001c0001t0046g0224 a0001c0001t0048g0112 a0001c0001t0049g0117 a0001c0001t0051g0148 a0001c0001t0053g0105 a0001c0001t0054g0103 a0001c0001t0060g0102 a0001c0001t0062g0106 a0001c0001t0063g0246 a0001c0001t0065g0266 a0001c0001t0066g0265 a0001c0001t0069g0269 a0001c0001t0070g0275 a0001c0001t0072g0279 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0078 a0002c0002t0003g0104 a0002c0002t0003g0125 a0002c0002t0003g0136 a0002c0002t0003g0201 a0002c0002t0007g0006 a0002c0002t0007g0007 a0002c0002t0007g0010 a0002c0002t0007g0011 a0002c0002t0007g0012 a0002c0002t0007g0015 a0002c0002t0008g0054 a0002c0002t0010g0044 a0002c0002t0013g0014 a0002c0002t0013g0016 a0002c0002t0013g0017 a0002c0002t0016g0041 a0002c0002t0016g0080 a0002c0002t0025g0001 a0002c0002t0026g0002 a0002c0002t0029g0009 a0002c0002t0031g0013 a0002c0002t0037g0081 a0002c0002t0039g0038 a0002c0002t0047g0123	188	280	0.6714	-347	c.154 others(19): Show c.154-35065_154-34719del		PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	6/18						chr11	TogoVar
PRDM15_chr21_41793225_41884344	41806371	TACCACCA others(340): Show TACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACCACCACCCATCACCATCACCACCAG CACCACCCATTACTACCACCACCATCACCACCATCACCATCACCACCACC ATCACCACCACCATCACTACCACCAACATCACCACCATCACCATCACCAT ACCACCACCATCACCACCACCACCATTACTACCACCACCATCATCACCAC CATCATCACCACCACCACCATCACCACCACCATCACCACCACCACCATCA CCATCACCACCACCATCACCACCACCACCCATCACTACCACCAACATC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01257.hp2 HG01258.hp2 others(5): Show HG01167.hp2 HG01257.hp2 HG01258.hp2 HG02257.hp1 HG02896.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0024 a0001c0009t0008 a0001c0009t0024	a0001c0009t0008g0286 a0001c0009t0008g0295 a0001c0009t0008g0363 others(5): Show a0001c0009t0008g0286 a0001c0009t0008g0295 a0001c0009t0008g0363 a0001c0009t0008g0364 a0001c0009t0008g0365 a0001c0009t0008g0400 a0001c0009t0024g0323 a0001c0009t0024g0333	8	406	0.0197	-347	c.265 others(19): Show c.2653-2104_2653-1758del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
RBFOX1_chr16_6014024_7718340	7008709	TCCCTCCC others(340): Show TCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC ACTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	68	0.0147	-347	c.-15 others(19): Show c.-15-43345_-15-42999del		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)