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
DDX51_chr12_132131594_132149319	132135145	CCCGAGTG others(415): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	334	0.0030	-422	c.37 others(11): Show c.3705_*4126del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1448		chr12	TogoVar
DUXA_chr19_57149021_57172485	57169372	CAGTTTGA others(415): Show CAGTTTGAATTTTGAAATACACAAAAGATATAATTACCATAATCAAATCA AGCTGATTGATGTATTTACCACCTCAAACCACACCCTTTGTGTGTGTGTA CATATATATTACATTATATTATATTTACTCCAATTAAATATTGTATTTAC TTTTTAGCTTTATTGAGGTACAGTTGACAAAAATGATATAAATGATATAT ATTTTAAATATACAGTTTGAATTTTGAAATACACAAAAGATATAATTACC ATAATCAAATCAAGCTGATTGATGTATTTACCACCTCAAACCACTCCCTT TGTGTGTGTGTACATATATATTACATTATATTATATTTACTCCAATTAAA TATTGTATTTACTTTTTAGCTTTATTGAGGTACAGTTGACAAAAATGATA TAAATGATATATATTTTAAATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03195.hp1 HG02109.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0397 a0001c0001t0002g0398 a0001c0001t0001g0397 a0001c0001t0002g0398	2	446	0.0045	-422	c.-23 others(11): Show c.-2351_-1930del	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		1888		chr19	TogoVar
ENTREP2_chr15_29115252_29575979	29119271	TAAGAATG others(415): Show TAAGAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAA CCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATA TTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA GGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGG GATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCA GCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTG CACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAATTAAAAATAAA TAAATAAATAAATAAAATAAAATAAAATAATAAAATAATTCACAATTCTA GCAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(70): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01891.hp2 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp2 HG03834.hp1 NA18906.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0010 others(15): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0001c0019 a0001c0039 a0002c0003 a0002c0005 a0002c0015 a0003c0006 a0003c0007 a0003c0014 a0003c0034 a0004c0013 a0006c0029 a0008c0025 a0008c0040 a0009c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0043 a0001c0010t0001 a0001c0010t0004 a0001c0010t0025 a0001c0011t0031 a0001c0019t0001 a0001c0039t0038 a0002c0003t0005 a0002c0003t0013 a0002c0003t0021 a0002c0003t0030 a0002c0003t0032 a0002c0003t0034 a0002c0005t0005 a0002c0005t0011 a0002c0005t0020 a0002c0005t0026 a0002c0015t0005 a0002c0015t0012 a0003c0006t0001 a0003c0006t0002 a0003c0006t0039 a0003c0007t0002 a0003c0007t0042 a0003c0007t0050 a0003c0014t0002 a0003c0014t0051 a0003c0034t0002 a0004c0013t0001 a0004c0013t0024 a0006c0029t0029 a0008c0025t0002 a0008c0040t0012 a0009c0026t0001	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0056 others(70): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0002g0060 a0001c0001t0002g0099 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0026 a0001c0001t0045g0034 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0075 a0001c0002t0001g0082 a0001c0002t0002g0040 a0001c0002t0004g0002 a0001c0002t0016g0005 a0001c0002t0016g0012 a0001c0002t0043g0113 a0001c0010t0001g0073 a0001c0010t0001g0088 a0001c0010t0004g0018 a0001c0010t0025g0001 a0001c0011t0031g0035 a0001c0019t0001g0033 a0001c0019t0001g0058 a0001c0039t0038g0049 a0002c0003t0005g0063 a0002c0003t0013g0017 a0002c0003t0013g0019 a0002c0003t0021g0016 a0002c0003t0030g0097 a0002c0003t0032g0109 a0002c0003t0034g0059 a0002c0005t0005g0057 a0002c0005t0005g0095 a0002c0005t0005g0100 a0002c0005t0011g0020 a0002c0005t0011g0023 a0002c0005t0020g0028 a0002c0005t0026g0011 a0002c0015t0005g0070 a0002c0015t0012g0008 a0003c0006t0001g0108 a0003c0006t0002g0065 a0003c0006t0002g0081 a0003c0006t0002g0107 a0003c0006t0039g0105 a0003c0007t0002g0074 a0003c0007t0002g0087 a0003c0007t0002g0094 a0003c0007t0002g0121 a0003c0007t0042g0038 a0003c0007t0050g0125 a0003c0014t0002g0067 a0003c0014t0002g0103 a0003c0014t0051g0124 a0003c0034t0002g0046 a0004c0013t0001g0114 a0004c0013t0001g0118 a0004c0013t0024g0010 a0006c0029t0029g0093 a0008c0025t0002g0090 a0008c0040t0012g0025 a0009c0026t0001g0072	73	125	0.5840	-422	c.36 others(11): Show c.3646_*4067del	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding		980		chr15	TogoVar
GTPBP6_chrX_299759_323796	321349	TAGCCGGG others(415): Show TAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTG AGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATA TGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAGAAAAGCCGGG CGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGA GGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGA CCCCATTATCTACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	155	0.0065	-422	c.-29 others(11): Show c.-2984_-2563del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2554		chrX	TogoVar
HIVEP1_chr6_12007312_12169999	12041861	GTGTTAGC others(415): Show GTGTTAGCTAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTT GGCCTCCCAAAGTGCTGGGGTTATAGGTGTGAGTCACCGTGCCTGGCCAG TTTTGTTTTTTATTTCTTTTCAGTTTTGCTTTTATTTTTGCCATTACAAA CGACTGCAGTAAACATCCTTACATCCTTTGTACATAGATTGTATTTGTTA ATATTCGTACGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCAAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCTGGCTAATTTTTTTTGTATTT TCAGTAGAGACGGGGTTTCACCT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02717.hp2 NA18522.hp2 HG01496.hp1 HG02717.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0245 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0245	3	344	0.0087	-422	c.40+ others(17): Show c.40+26201_40+26622del	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
LACTB2_chr8_70632266_70674185	70638984	TGCCTCGG others(415): Show TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCT GGCCTATCTTAAACACATTTTTAACTTGTTTGACATTTTTAACAATTTCA CTTTGTATACATCTTGTTTTATATTCTATATATACTCCTATAGATAGAAT AGGTTGTAAGCTCCATAAAGACAGTAGCAGTATCTTTTTTTTTGAGACAG AGTTTCACTCTTGTCACCTAGGCTGGAGTGCAATGGCGCGATCTCGGCTC ACTGCAACCTCCACCTCCCAGGTTCAAACTATTCTCGTGCCTCAGCCTCC CGAGTAGCTAGGATTACAGGCGTGTGCCACCATGCCTCGCTAATTTTTGT ATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAAC TCCTGACCTCGGGTGATCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	352	0.0028	-422	c.742 others(15): Show c.742-777_742-356del	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	5/6			chr8	TogoVar
MGLL_chr3_127684066_127827515	127810849	GAAGCAAA others(415): Show GAAGCAAACCCTCCAGATTCTGACATCCACAGCAACTTCTGTGCTAAAAT GGAAAACACCTGCCATACTGTAACTCCCACTCGTAGATGCATTTCACACA GAGTTTTACAGCAAAGCTAACCAAACTGGTGAAAGTACAGCCATCCAGTA TCTCAAGGGGTAACCTGCAGGGAATATTCTTCTTCTAGGTGTCACTAACT CCTTCGGTGATACTTCTGGATTTAGGTGCTCCTTTCCTGCACAAAAGGTT AATGCCTTGAAGCCATACTCAACAGAAATGCTTATATTCTTTTCCTGCAA AACTGTGGCAGTAGAGACTTCAGGAATCATCCTCTCTCAGTCATCCCACT GTAAATATGAGGAACTTGAATCATCCATGCAACAAACGTGTTTTGATCCC TTATTTTGTGCCAGGTATGAAAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01346.hp2 others(16): Show HG00639.hp2 HG01123.hp2 HG01346.hp2 HG02257.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0026 a0001c0001t0032 a0001c0002t0031	a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0311 others(16): Show a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0119 a0001c0001t0002g0278 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0310 a0001c0001t0007g0122 a0001c0001t0009g0127 a0001c0001t0009g0129 a0001c0001t0010g0130 a0001c0001t0013g0126 a0001c0001t0026g0125 a0001c0001t0032g0314 a0001c0002t0031g0313	19	314	0.0605	-422	c.155 others(19): Show c.155+10423_155+10844del	MGLL	ENSG00000074416.16	transcript	ENST00000265052.10	protein_coding	2/7			chr3	TogoVar
MIER2_chr19_300573_349796	323757	TACACAGG others(415): Show TACACAGGACACACACAACCACAGACAACTCGAATGACACAGACGTCATC ACAATGCAATACACAAGACACACAAAACCACACAGACAACTCGAATGACA CAGGCGTCATCACAATGCAATACACAAGACACACACAACCACACAGACGA CTCGAAGGACATAGGCGTCATCACAATGCAATAAAGACACACACAACCAC ACAGACGACTCGAATGACACAGACGTCATCACCATGCAACACACAGGACA CACACAACCACGCAGACGACTCGAAGGACACAGGCGTCATCACAATGCAA TACACAAGACACACACAACCACGCAGACGACTCAAAGGACATAGGCGTCA TCACAATGCAATAAAGACACAACCACACAGACGACTCGAATGACACAGGC GTCATCACAATGCAATACACAGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG01884.hp2 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0226 a0001c0005t0002g0227 a0001c0005t0002g0226 a0001c0005t0002g0227	2	384	0.0052	-422	c.655 others(17): Show c.655+1456_655+1877del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	7/13			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085465	ACCGCTGT others(415): Show ACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCG TGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTC TGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATC TCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCAC TGTTGTGATCTCTGCGTGGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0022 a0022	a0022c0066 a0022c0066	a0022c0066t0005 a0022c0066t0005	a0022c0066t0005g0274 a0022c0066t0005g0274	1	403	0.0025	-422	c.164 others(16): Show c.1644+78_1644+499del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085836	ACTGTCGT others(415): Show ACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGT GGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGC GTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTG ATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGT CGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACT GTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCA CTGTTGTGATCTTTGCGTGGCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0325 a0003c0004t0001g0325	1	403	0.0025	-422	c.164 others(17): Show c.1644+448_1644+869del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086048	CCACAGTC others(415): Show CCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGC GTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCT GCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCT TTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCC GCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGAT CTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTG TGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACT GTCGTGATCTCCACGTGGCCACA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0083 a0001c0022t0001g0083	1	403	0.0025	-422	c.164 others(18): Show c.1644+662_1644+1083del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PCMT1_chr6_149744741_149816419	149762540	ATATCTAT others(415): Show ATATCTATGATATATATATATCTATGATATATATATCTATGATATATATA TCTATGATATATATATCTATGATATATATATATCTATGATATATATATAT CTATGATATATATATGATATATATATCTATGATATATATATATCTATGAT ATATATATATCTATGATATATATATCTATGATATATATATCTATGATATA TATATATCTATGATATATATACCTATGATATATATATACCTATGATATAT ATACCTATGATATATATATCTATGATAATCTATGATATATATGATATATA TATCTATGATATATATCTATGATATATATATCTATGATATATATGTTATA TATATCTATGATATATATCTATGATATATATATCTATGATATATATGATA TATATATCTATGATATGTATATC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	334	0.0030	-422	c.56- others(15): Show c.56-8618_56-8197del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PGAM1_chr10_97421191_97438444	97425134	CGAGGCCG others(415): Show CGAGGCCGGTGTATCACTTGTGGTCAGGAGTTCGATACCAGCCTGGACAA CATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATCAGCCGGGCGTGG TGGCGGCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATT GCTTAAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCACCACTGC ACTCCAGTCTGGGAGATAGCTCCGTCTCAAAAAAAAAAAAAAAATTGTAA TAATAAATTGCTGATTGGGGCTCGGAGAAGAACAGGCAGTGACTAGAACT CGCCCCTTCCTGAAATATTTGAAGGGTCCTAGCGTTTGCTTTCTTGTTGG AGGCCCAGAAAGCACTGACTTAACGTGTGTGAAAGATTGTAGACAGAGAC GGGATAAAGAGCCCCGCGCTGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	-422	c.-11 others(10): Show c.-1173_-752del	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		1056		chr10	TogoVar
SLC35D2_chr9_96315710_96388711	96318004	CCAGACTG others(415): Show CCAGACTGGGAGACAGAGCAAGACGTTGTCTCAAAAAAAAAAAAAGTCTG GGAGCTCCAAGTTTACACTCCAGAAGCCTTTTAATTATTTTATCTTACTA TTTGTGCTTGTAGACACAGATCTTGCCATATTGCCATGCCCAGCCCTCCA GAAGCCTCTTAAAAGCACATTGAAGGCTGGGCACAGTGGCTCACACCTGT AATCCCTACACTTTAGGAGGCCAGGGTGGGAGAATCACTTGAACTTGGGA GTTCGAGATCAGCCTGGGCAACAGGGCAAGAGTCTGTCTCTACAAAAACT ATTTAAAATTAGGCAGGCTAATTTTTTAGTAGTGGTCCCAGCTCCTCGGG AGGCTGAGGTGGGAGGATCGCTTGAGCCTGGAAGATGGAGACTGCAGTGA GCCGAGATCATGCAACTGCACTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	284	0.0035	-422	c.28 others(11): Show c.2816_*3237del	SLC35D2	ENSG00000130958.13	transcript	ENST00000253270.13	protein_coding		2705		chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135625	TCTCAGCC others(415): Show TCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACCACGCC CTGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGCCTCGATCTCCGGACCTTGTGATCTGCCCGCCTCTGCCTC CCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCATCCTTCTATCT CACTTTGAATCAAAGGGACCTACCCACATACAATTAAGATTTTTTTAAAA TTCTATTTATGTACTTATGTAATTTTATTTTAAGTTCCGGGGTACATGTG CAGGACCTGCAGTTTTCCTTTCTTTTTGAGATGGAGTCTCACTCTGTTGC CCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTCACTGCAACCTGTGCCTC CTGGGTTCATGCCATTCTCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0300 a0002c0002t0001g0301	2	446	0.0045	-422	c.189 others(17): Show c.189+2211_190-1957del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3			chr9	TogoVar
TMEM120B_chr12_121707752_121787068	121747270	CTGGGGTA others(415): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGCGGGAGGCTGGGGTAAAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0026 a0001c0007t0026	a0001c0007t0026g0017 a0001c0007t0026g0017	1	314	0.0032	-422	c.189 others(16): Show c.189-1055_189-634del	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235781	CAGGCGAG others(414): Show CAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAA TTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATT CTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGG GTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAA GAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGA ACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGG CGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAA CTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATC GGAGTGGGCGCTGAACGAACAT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	106	0.0094	-421	c.136 others(19): Show c.1362-2357_1362-1937del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANXA2_chr15_60342151_60402986	60367344	AAAGTGAG others(414): Show AAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGGTCCGGGAGGGAGGC GGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGG TCAGCCCCCCTTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTAGGAAGTGAGGACCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGACAGCCCCCCGCCCGGCCAGCCGC CCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCGCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGG GGTCAGCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTT CTGCCCGGCCGCCCCTACTGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG02109.hp1 others(5): Show HG00639.hp2 HG01167.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02895.hp2 HG03516.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0210	8	334	0.0240	-421	c.149 others(17): Show c.149-3242_149-2822del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
CFAP74_chr1_1916957_2008786	1981399	GCCGCGGA others(414): Show GCCGCGGACAGACACGGGGGCACGCAGGACACCCAGCCGCGGACAGACAC GGGGGCACGCAGGACACCCAGCCGCGGTCACACGCGGGGGCACGCAGGAC ACCCAACCACGGACAGACATGGGGGCACGCAGGACACACAGCCGCGGACA GACACGGGGGGCACACAGGACACCCAGCCGTGGACAGACACGGGGACACG CAGGACACACAGCCGCGGACAGACACGGGGGCACGCAGGACACACAGCCG CGGACAGACACAGGGGCACGCAGGACACCCAGCCGCGGACAGACACGGGG GCACGCAGGACACCCAGCCGCGGACAGACACGGGGGCACGCAGGACACCC AGCCGCGGTCACACGCGGGGGCACGCAGGACACCCAGCCGCGGTCACACG CGGGGGCACGCAGGACACCCAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0046 a0046	a0046c0045 a0046c0045	a0046c0045t0001 a0046c0045t0001	a0046c0045t0001g0034 a0046c0045t0001g0034	1	278	0.0036	-421	c.500 others(17): Show c.500+3566_500+3986del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CISD2_chr4_102863992_102897807	102890810	AGCCTGGG others(414): Show AGCCTGGGCAACAGAAGTGAAACCCTATCTTAAAAAAAAAAAAAGTCTTT TTTTTTTTTCATCTAATCAAATTTATTGTGGCAGAAATCAGTACGAAGTT CGTAGGACAGGAGGAAACCAATATAAATATCTCAGCATTGTAGGAAATTT AACCCATGGAAAGCAGGGGTGAATTAAAGACCACTTTGAAGGCTGGGAAA AGCAGATAATTTAGATATAGTCAAAGTATGAAATCATTGATAGATCCAGA ACAAGGAAATGATGTATGTGTTTACATATTACATCTACTTTATTAACAAT TTTCCCTCTGTTAAACTAATATCGACTAATAGTAGTCTAGGTAAGTCAAG TTCAAATTAAGTGGTAATTGAAAAAGTCTTCTTTTTAAAAAATTTTTAAT GGTAGAGGCAGCAGCTACCCAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02615.hp2 others(7): Show HG00735.hp1 HG01884.hp2 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG03195.hp2 HG03579.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0030 a0001c0001t0009 a0001c0001t0026 a0001c0001t0030	a0001c0001t0009g0009 a0001c0001t0009g0032 a0001c0001t0026g0031 others(1): Show a0001c0001t0009g0009 a0001c0001t0009g0032 a0001c0001t0026g0031 a0001c0001t0030g0115	10	354	0.0283	-421	c.33 others(11): Show c.3381_*3801del	CISD2	ENSG00000145354.12	transcript	ENST00000273986.10	protein_coding	3/3	3381		chr4	TogoVar
DDX18_chr2_117809691_117837377	117834686	GCCCAGGC others(414): Show GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCGCTGCAAGCTCGGCC TCCCGGGTTCACGCCAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCACGCCCGGCTAATGTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATGTTAGGATGGTCTCAATCTCCTGACCTCGTGAT CTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCT CACCCAGTCCGCATCCAACCTTTTATTTGGAGACAATACCTTTCAAGTAC TGGTGGGTTACTGAGATCACCTCCCATCAGACAAGCAAAAACGCCTCCCA TGCAGCCAGGGTGGGGCTGTGACCTGGGTTTGGCTAATCACATACATTTG CCCAGAGTGAATCAGATACTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0009 a0013c0014t0009	a0013c0014t0009g0117 a0013c0014t0009g0117	1	414	0.0024	-421	c.39 others(11): Show c.3963_*4383del	DDX18	ENSG00000088205.13	transcript	ENST00000263239.7	protein_coding		2310		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806986	CCACCCTC others(414): Show CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCT CACGCCAGGGACCCGGGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02155.hp2 HG02738.hp1 others(2): Show HG00733.hp2 HG02155.hp2 HG02738.hp1 NA19002.hp2 NA19005.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0193 a0001c0001t0002g0212 a0002c0002t0002g0144 others(2): Show a0001c0001t0001g0193 a0001c0001t0002g0212 a0002c0002t0002g0144 a0002c0002t0002g0159 a0004c0004t0001g0126	5	314	0.0159	-421	c.28 others(11): Show c.2821_*3241del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2700		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806991	CTCCCCCC others(414): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGC CAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01169.hp2 others(15): Show HG00558.hp1 HG00741.hp1 HG01169.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02148.hp1 HG02886.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp2 HG03710.hp1 NA18952.hp1 NA18957.hp1 NA19060.hp1 NA19063.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0010 a0002c0002 others(5): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0003c0011 a0005c0005 a0006c0006 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0011t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0164 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0215 a0001c0001t0002g0197 a0001c0010t0001g0035 a0002c0002t0001g0004 a0002c0002t0001g0095 a0002c0002t0002g0162 a0003c0003t0001g0007 a0003c0003t0001g0038 a0003c0003t0001g0224 a0003c0011t0001g0118 a0005c0005t0001g0002 a0006c0006t0001g0003 a0007c0008t0001g0068	18	314	0.0573	-421	c.28 others(11): Show c.2826_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2705		chr2	TogoVar
HIC1_chr17_2050103_2068241	2052654	AGGGGCCT others(414): Show AGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAAT GAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGA CCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGG GCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGA GGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTA CAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAG GGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTT AGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAAT GAGGGCTTGAGGATGGGGTTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	-421	c.-26 others(11): Show c.-2604_-2184del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2448		chr17	TogoVar
LMF1_chr16_848634_975984	858356	CAGTGGTG others(414): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG ACTCGGGACGGGTGTGCAGTGGTGACTCGGGACGGGTGTGCGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGACT GGTGTCACGGGACGGGTGTGCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0046 a0007c0046	a0007c0046t0004 a0007c0046t0004	a0007c0046t0004g0036 a0007c0046t0004g0036	1	294	0.0034	-421	c.153 others(19): Show c.1530-4071_1530-3651del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MVB12B_chr9_126321829_126512040	126484525	TTCTTCCA others(414): Show TTCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATG AGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACT GTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGT ACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATG AGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTG TGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTA CCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	318	0.0031	-421	c.873 others(15): Show c.873+496_873+916del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241806986	CCACCCTC others(414): Show CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCT CACGCCAGGGACCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02155.hp2 HG02738.hp1 others(2): Show HG00733.hp1 HG02155.hp2 HG02738.hp1 NA19002.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0163 a0001c0001t0003g0043 a0001c0002t0001g0014 others(1): Show a0001c0001t0001g0163 a0001c0001t0003g0043 a0001c0002t0001g0014 a0002c0003t0002g0013	5	319	0.0157	-421	c.-22 others(11): Show c.-2291_-1871del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2206		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806991	CTCCCCCC others(414): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGC CAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01099.hp2 others(10): Show HG00558.hp2 HG00741.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01981.hp1 HG02486.hp1 HG02886.hp2 HG06807.hp1 NA18952.hp1 NA19004.hp1 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0007 a0002c0003t0002 a0002c0003t0003 a0003c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0123 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0123 a0001c0001t0003g0010 a0001c0001t0003g0130 a0001c0002t0001g0028 a0001c0002t0007g0074 a0002c0003t0002g0034 a0002c0003t0003g0106 a0003c0007t0002g0020	13	319	0.0408	-421	c.-22 others(11): Show c.-2286_-1866del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2201		chr2	TogoVar
TNFRSF18_chr1_1198508_1211592	1207339	GGAGACTG others(414): Show GGAGACTGTCCTATGTCTTTCTGAGCCTCAGTTTCCCCTGTGGGCACCGA GGGGTTCTGGGACCCTGCCTCCACCAGGAAGCCTCCCTGGATTGCCCAGC CCTGCTTCTGCGCCGTCCAGCACAGGTGGAGACCCCCATGAATGCTGGGG GTGGGGGCTCTCGGGAACGTGAGCGTGGATGTGGTTCAACACCCTTTTGA GACCTGCAGCCACCGCCTCACCCCGTAAGGCGGTTCCTCCTTTTCCAAGG TAAATGACAGGAATTAGCTGTTTGTGACACCCCGGAGTTCTCAAATCCAA GATGTAGGAGCCTGCCTTGGAGAGGCAGCCCTCAGACACTGCAGAGAAGG AAGGGGTCTCTGCAGCTCCAGGCCGCCCCGACGCTCGGAAGGAAAGGGGT GGGGCCAGCTGGGCCTGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(117): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02683.hp2 HG02698.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0007 a0001c0014 others(2): Show a0001c0001 a0001c0007 a0001c0014 a0008c0010 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0007t0001 a0001c0014t0001 a0008c0010t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0030 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0002g0020 a0001c0001t0009g0039 a0001c0007t0001g0014 a0001c0014t0001g0040 a0008c0010t0001g0036 a0009c0009t0001g0035	120	386	0.3109	-421	c.-11 others(10): Show c.-1189_-769del	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		748		chr1	TogoVar
TNFRSF4_chr1_1206340_1219153	1207339	GGAGACTG others(414): Show GGAGACTGTCCTATGTCTTTCTGAGCCTCAGTTTCCCCTGTGGGCACCGA GGGGTTCTGGGACCCTGCCTCCACCAGGAAGCCTCCCTGGATTGCCCAGC CCTGCTTCTGCGCCGTCCAGCACAGGTGGAGACCCCCATGAATGCTGGGG GTGGGGGCTCTCGGGAACGTGAGCGTGGATGTGGTTCAACACCCTTTTGA GACCTGCAGCCACCGCCTCACCCCGTAAGGCGGTTCCTCCTTTTCCAAGG TAAATGACAGGAATTAGCTGTTTGTGACACCCCGGAGTTCTCAAATCCAA GATGTAGGAGCCTGCCTTGGAGAGGCAGCCCTCAGACACTGCAGAGAAGG AAGGGGTCTCTGCAGCTCCAGGCCGCCCCGACGCTCGGAAGGAAAGGGGT GGGGCCAGCTGGGCCTGGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(131): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02698.hp2 HG03492.hp2 HG03710.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0008g0059 a0001c0002t0001g0002	134	406	0.3301	-421	c.37 others(11): Show c.3795_*4215del	TNFRSF4	ENSG00000186827.12	transcript	ENST00000379236.4	protein_coding		4000		chr1	TogoVar
XXYLT1_chr3_195063284_195276159	195143863	TAGATATA others(414): Show TAGATATAGATATATATATATATATATTTATTTTTTATTTTTATTTTTTT TTTGAGATGGACTCTTGCTGTCATCCAGGCTGGAGTGCAAGGGCGAGATC TTGGCTCACTGCAACCTCTGCTTCCAGGTTCAAGCAATTCTCCTGCTCAG ACTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTGATT TTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCT CAAACTCCTGACCTTAAGTGATCCACCTGCCTGGGCCTCCCAAAGTGCTA GGATTACAGGCATGAGCCACCGTGCCTGGCCAACCGCCCACTCCACTCCA TCTCGAGTGTGATATGGCATGTGGACCGGGGACTGGGCCTCTTCTAATCT GATCGGTGCAAATGGCTGGCTA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18944.hp1 HG02056.hp1 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0014 a0002c0002t0004g0011 a0001c0001t0003g0014 a0002c0002t0004g0011	2	198	0.0101	-421	c.785 others(19): Show c.785+12165_785+12585del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZNF16_chr8_144925358_144955880	144946518	TCTGTGTC others(414): Show TCTGTGTCCTGCTGTGGGGCCTGTGTACTGCTGTGGGGCCTGTACCCTGC TGTGGGCCTGTGTCCTGCTGTGGGTCTGTATCCTGCTGTTGGGCTTGTGT CCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTACTGTGGGC CTGTACCCTACTGTGGGCCATACCCTGCTGTGGGCCCGTGTCCTGCTGTG GGGCCCGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGC TGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTC CTGCTGTGGGCCTGTATCCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCT TGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTG TGGGCCATACCCTTCTGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02258.hp2 others(6): Show HG01109.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02886.hp1 HG02965.hp2 NA18969.hp1 NA18975.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0026 a0001c0001 a0009c0026	a0001c0001t0001 a0009c0026t0001 a0001c0001t0001 a0009c0026t0001	a0001c0001t0001g0023 a0001c0001t0001g0203 a0001c0001t0001g0204 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0303 a0009c0026t0001g0324	9	404	0.0223	-421	c.-9- others(13): Show c.-9-724_-9-304del	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393812	GGGGAAGG others(414): Show GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04115.hp1 HG03017.hp1 HG04115.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0039 a0001c0001 a0006c0039	a0001c0001t0004 a0006c0039t0001 a0001c0001t0004 a0006c0039t0001	a0001c0001t0004g0008 a0006c0039t0001g0178 a0001c0001t0004g0008 a0006c0039t0001g0178	2	346	0.0058	-421	c.181 others(21): Show c.1811-13930_1811-13510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1235781	CAGGCGAG others(413): Show CAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAA TTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATT CTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGG GTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAA GAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGA ACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGG CGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAA CTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATC GGAGTGGGCGCTGAACGAACA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	106	0.0094	-420	c.136 others(19): Show c.1362-2356_1362-1937del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1540510	CCCAGACC others(413): Show CCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGA CCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGA CGCAGTTCGGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGT TTGGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGAC TCTGGATCCGTCCAGATCCCACTCAGACGTAGTTCAGACCCTGGATCACA GCCATCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCACAGCCATC CAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGACCCCACT CAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGATG TAGTTCAGACCCTGGATCCGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	106	0.0094	-420	c.101 others(21): Show c.101-161770_101-161351del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111221	GCACCTCC others(413): Show GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACGGA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0260 a0001c0001t0075g0260	1	368	0.0027	-420	c.401 others(17): Show c.401+8414_401+8833del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111267	CTCCCTCC others(413): Show CTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCA CCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCC CACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGAC AACCTGCCCCCCCGGGAACCA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	368	0.0027	-420	c.401 others(17): Show c.401+8447_401+8866del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111289	AACCTGCC others(413): Show AACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCAT CCCTCCTAATCCCACCAGACC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0242 a0001c0003t0009g0242	1	368	0.0027	-420	c.401 others(17): Show c.401+8456_401+8875del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111576	ACCAGACA others(413): Show ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCC CCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCCACGGG CACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAGACCACCTGC CCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATGCCT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0296 a0001c0001t0010g0296	1	368	0.0027	-420	c.401 others(17): Show c.401+8741_401+9160del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
AGO2_chr8_140515156_140640633	140622864	GGGGTCTC others(413): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATCCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGTAA TAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0275 a0001c0004t0005g0275	1	338	0.0030	-420	c.22+ others(17): Show c.22+12201_22+12620del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AK8_chr9_132720578_132883284	132821769	GTATATGT others(413): Show GTATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATGTGT ATGTATATACAAATATATACATATATGTGTATGTATATACAAATATATAC ATATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATGTGT ATGTATATACAAATATATACATATATGTGTATGTATATACAAATATATAC ATATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATGTGT ATGTATATACAAATATATACA	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	266	0.0038	-420	c.889 others(17): Show c.889+1016_889+1435del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ARHGAP39_chr8_144524179_144690846	144531294	AAGGGCAC others(413): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATA GCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	246	0.0041	-420	c.298 others(17): Show c.2980+591_2981-424del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531530	AAGGGCAC others(413): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0195 a0005c0013t0002g0195	1	246	0.0041	-420	c.298 others(17): Show c.2980+355_2981-660del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
B4GALNT3_chr12_454939_568509	543641	GGAGCTGA others(413): Show GGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCATCTTCCTGGAGCTGA GGAGCTGGGACGGGCATGGGGTGCTCATCCTCCTGGAACTGAGGAGCTGG GATGGGCATGGGGTGCTCATCCTCCCAGAGCTGAGGAGCTGGGGCAGGCA TGGGGTGCTCATCTTCCCGGAGCTGAGGAGCTGGGATGGGCATGGGGTGC TCATCTTCCCGGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCATCTTC CTGGAGCTGAGGAGCTGGGACGGGCATGGGGTGCTCATCCTCCTGGAGCT GAGGATCTGGGGCGGGTGTGGGATGCTCATCCTCCTGGAGCTGAGGAGCT GGGGCGGGCATGGGGTGCTCATCTTCCCGGAGCTGAGGAGCTGGGGCGGG CATGGGGTGCTCATCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0208 a0001c0001t0028g0208	1	394	0.0025	-420	c.352 others(15): Show c.352-611_352-192del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1orf159_chr1_1076823_1121089	1077449	GGGGGGAG others(413): Show GGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATG GGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGC TGAGGCTACGGGGACTCCGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	326	0.0031	-420	c.50 others(11): Show c.5024_*5443del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4373		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077947	CGGGGACT others(413): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAC GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	326	0.0031	-420	c.45 others(11): Show c.4526_*4945del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3875		chr1	TogoVar
C2CD4C_chr19_400445_414147	404547	GACGGGGT others(413): Show GACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATG GGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGG TGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTG TGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGT CCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGT GGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCT GCCCTGAGGGGTGTGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA19082.hp1 NA18997.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0007 a0001c0002t0011g0007	2	322	0.0062	-420	c.21 others(11): Show c.2129_*2548del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		897		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531294	AAGGGCAC others(413): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATA GCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	398	0.0025	-420	c.-27 others(11): Show c.-2798_-2379del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2184		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531530	AAGGGCAC others(413): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0010 a0002c0004t0003g0010	1	398	0.0025	-420	c.-30 others(11): Show c.-3034_-2615del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2420		chr8	TogoVar
CAMK2B_chr7_44212154_44330594	44227071	TGGGGGAT others(413): Show TGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGGATGTGGGGGACAGAGG GAGTGTGGAGGACAGAGGGGGATGTGGGGGACAGAGAGAGGTGCAGGGGA CAGAGGAGGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGGGGATG TGGGGGACAGAGGGGAAGTGGAAGACAGAGGGGGTGTGGGGGACAGAAGG CGGTGTGGGGAACAGAGGGGGAGGTGGGGGACAGAGGAGAGTATGGGGGA CAGAGGGGGTGTGGGGGACAGAAGGGGGTGTGGAAGACAGGAGGTGTGGG GGACAGACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGG TGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGA AGGGGGTATGGGGGGCAGGGG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	242	0.0041	-420	c.146 others(17): Show c.1469-847_1469-428del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar

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Search Results (Total: 10000 hits)