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
ADGRL3_chr4_61195326_62083335	61633134	GTGTTGGA others(547): Show GTGTTGGAGCTGACTATTGGAGCAACTCTAATGCCAATTTTTCTTACTCT CTTATTATTGAAGGTGTAACTTGATAAAACTGTACCTGCGTTGCAGTTTG GGGTTTTAAAGTGTGAGTATTGTTTTGACACACACACTTAGGCTTGACAT CATGTATTATTTTATTTGGTCCTGGCAGAACCCTGTGAAGATTATAGACA TTGTTATTCTATATAATGAAGGAGTGAACTGCACGTTAGAGAAAGTCAAT TGGATTGTGTCCTCATATACATAGTGGGTGTTGGAGCTGACTATTGGAGC AACTCTAATGCCAATTTTTCTTACTCTCTTATTATTGAAGGTGTAACTTG ATAAAACTGTACCTGCGTTGCAGTTTGGGGTTTTAAAGTGTGAGTATTGT TTTGACACACACACTTAGGCTTGACATCATGTATTATTTTATTTGGTCCT GGCAGAACCCTGTGAAGATTATAGACATTGTTATTCTATATAATGAAGGA GTGAACTGCACGTTAGAGAAAGTCAATTGGATTGTGTCCTCATATACATA GTGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01167.hp2 others(37): Show HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0003c0016 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0038 a0001c0002t0008 a0001c0002t0021 a0001c0002t0033 a0001c0002t0034 a0001c0003t0003 a0001c0003t0006 a0001c0003t0040 a0001c0003t0041 a0001c0004t0009 a0001c0004t0015 a0001c0004t0025 a0001c0005t0005 a0001c0005t0035 a0001c0006t0006 a0001c0006t0010 a0001c0007t0001 a0001c0007t0017 a0001c0008t0004 a0001c0011t0007 a0001c0012t0001 a0001c0014t0036 a0001c0017t0028 a0003c0016t0032 a0004c0010t0010	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0056 others(37): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0014 a0001c0001t0003g0021 a0001c0001t0004g0026 a0001c0001t0005g0034 a0001c0001t0008g0028 a0001c0001t0016g0002 a0001c0001t0019g0003 a0001c0001t0020g0004 a0001c0001t0024g0018 a0001c0001t0029g0057 a0001c0001t0031g0050 a0001c0001t0038g0007 a0001c0002t0008g0022 a0001c0002t0021g0005 a0001c0002t0033g0058 a0001c0002t0034g0054 a0001c0003t0003g0009 a0001c0003t0006g0036 a0001c0003t0040g0008 a0001c0003t0041g0038 a0001c0004t0009g0012 a0001c0004t0015g0032 a0001c0004t0025g0010 a0001c0005t0005g0031 a0001c0005t0035g0047 a0001c0006t0006g0033 a0001c0006t0010g0024 a0001c0007t0001g0046 a0001c0007t0017g0001 a0001c0008t0004g0023 a0001c0008t0004g0029 a0001c0011t0007g0040 a0001c0012t0001g0052 a0001c0014t0036g0048 a0001c0017t0028g0019 a0003c0016t0032g0053 a0004c0010t0010g0020	40	58	0.6897	-554	c.474 others(19): Show c.474-43383_474-42830del	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(547): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02300.hp2 HG02083.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0189 a0001c0001t0004g0183 a0001c0001t0004g0189	2	326	0.0061	-554	c.-1- others(13): Show c.-1-803_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CRYBG2_chr1_26316865_26359130	26334743	TGAAACCC others(547): Show TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCG GGTGCCTGTAATCCCAGCTACTCAGGCGGCTGAAGCAGGAGAATTGCTTG AACCGGGAGGCAGAGGCTGCAGTGAGCTGAGACAGTGCCACTGCACTCCA GTCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAC AAACAAACAAACAAACAAAAAACAGGAAACTCCCAACAGCATTCAGTGGT TTTTACTATTAGTTGTAATAAGGGCATTATAACTTTGAAACACCTAGCAT GCAGATTTTGGTCTCTACCATTTGCCACTAAAAAGAACCAGGGTTCCTTG GCAAATAGCCAATTCTAGATTTGGAGCAAAAAAAAAAAAAAATGTACAAA ATGATCCTGGAGCATCTTATTATATCAAGAAAGTTATCAAAACTACTGGG GTCGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGTGGGCGGATCACCTGATGTTGGGAATTCAACACCAGCCTAATCCAC ATGGA	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18944.hp1 NA19011.hp2 NA18939.hp1 NA18944.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0140 a0002c0002t0001g0017 a0002c0002t0001g0140	3	376	0.0080	-554	c.418 others(18): Show c.4184+798_4184+1351del	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	14/19			chr1	TogoVar
LMF1_chr16_848634_975984	953211	ACACCCAC others(547): Show ACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGAC ACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAG ACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAA CCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTAC ATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAG ACACC	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0149 a0002c0007t0001g0149	1	294	0.0034	-554	c.503 others(16): Show c.503+592_503+1145del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
TFAP4_chr16_4252186_4278023	4258981	GGGAGGCT others(547): Show GGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGAGGAGGTTGCGA TGAGCTGAGATAGCACCATTGCACTCCAGCCTGGGCAATAAGAGCGAAAC TCTATCTCAAAAAAAAAGAAAAAAAAAGAAATAATATGGACCTTTCATAT GTTTTTGTTTGTTTGTTTTTTGAGAAAGAGTCTCACCGTGTCACCCAGGC TGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACTTCCACCTCCCATGT TCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGCGT GCACCACCACGTCAGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTT CACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACC CACTTTGGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACACCC GGCCATATGTTTATGTATTTTAAAGCTTGCCTATTAACTTATTAAAGGCG TTTGTTATTAATTGTATTACACAATTTGCAAAGTTTATGAGCAATTAAAA TTCGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0260 a0002c0002t0002g0260	1	404	0.0025	-554	c.822 others(15): Show c.822+555_823-733del	TFAP4	ENSG00000090447.12	transcript	ENST00000204517.11	protein_coding	6/6			chr16	TogoVar
TMEM132D_chr12_129066726_129909025	129857339	GGGGAAAC others(547): Show GGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGG AGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTA ACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGA ACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCC TTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCG GGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGG TGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGA GTCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02486.hp1 others(1): Show HG01884.hp1 HG02109.hp1 HG02486.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0002c0003t0001	a0001c0001t0001g0012 a0001c0001t0003g0065 a0001c0001t0021g0044 others(1): Show a0001c0001t0001g0012 a0001c0001t0003g0065 a0001c0001t0021g0044 a0002c0003t0001g0031	4	94	0.0426	-554	c.79+ others(17): Show c.79+45368_79+45921del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858072	GAACGGGA others(547): Show GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTC CGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCC CTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCC GGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCC CTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCC TGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	94	0.0106	-554	c.79+ others(17): Show c.79+44635_79+45188del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
ZFYVE28_chr4_2264597_2423645	2396070	CCAAGGCG others(547): Show CCAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGC CACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGA CACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG ACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GACACAAGGCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGG GACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGACA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(2): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG02071.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0012 a0001c0001 a0001c0005 a0002c0012	a0001c0001t0001 a0001c0005t0007 a0002c0012t0001 others(1): Show a0001c0001t0001 a0001c0005t0007 a0002c0012t0001 a0002c0012t0003	a0001c0001t0001g0088 a0001c0001t0001g0213 a0001c0005t0007g0218 others(2): Show a0001c0001t0001g0088 a0001c0001t0001g0213 a0001c0005t0007g0218 a0002c0012t0001g0210 a0002c0012t0003g0151	5	290	0.0172	-554	c.39+ others(17): Show c.39+21661_39+22214del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2396169	ACACAAGG others(547): Show ACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGG GGACACAAGGCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGG GGACACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAG GGGCCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAG GGGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAG GGGACACAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGA GGGGCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGA GGGGC	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0040 a0001c0005t0002g0040	1	290	0.0035	-554	c.39+ others(17): Show c.39+21562_39+22115del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393431	TCAGGTGG others(547): Show TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGG	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0089 a0001c0001t0187g0089	1	346	0.0029	-554	c.181 others(21): Show c.1811-13682_1811-13129del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGAP21_chr10_24578614_24728887	24656467	GAAGTGAG others(546): Show GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	352	0.0028	-553	c.268 others(18): Show c.268+9965_268+10517del	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
CDK19_chr6_110604978_110820469	110749813	CTCAGGCT others(546): Show CTCAGGCTGGAGTGCAGTGGCATGATCTCAGTTCAGTGCAACCTCCGCCT CCCAGGTTCAAGCATTCTTCTGCATCAGCCTCCAGAGTAGCTGGGACTAC AGGTGCCCGCCACCACACCCAGATAATTTTTGTATTTTTAGTAGAGATGG GGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGGTGATCC GCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCG CCCAGCCAAATGATCACACCATTAACCAAAGAAATGATGACATGACCTAA ATGAAGACCTGGAAACCTAAGATTTTATCCTAAAAGCAATGAAAATTACA TATGAAGGTTAATCTTATTAGAGAGGACTAAGATTAAAGGGATGAAAAAC AATTAGGAAGTTACTGTGATGTAAGTGTGAGAAGGTGAAAACCTGGATGA GTAGAACAGAATGTTAGCTCTGAAAGGGATCTAAGACAATCCTGTATAAT CTGTTCACTTCAGTGATGAAGAAACTAGGCCAGCAGCCAGAGGCAGAGCT AAGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00558.hp2 others(77): Show HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19006.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037	a0001c0001t0001g0036 a0001c0001t0001g0139 a0001c0001t0001g0141 others(77): Show a0001c0001t0001g0036 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0277 a0001c0001t0002g0149 a0001c0001t0002g0179 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0004g0199 a0001c0001t0006g0140 a0001c0001t0007g0196 a0001c0001t0008g0143 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0161 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0168 a0001c0001t0008g0174 a0001c0001t0008g0191 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0201 a0001c0001t0008g0202 a0001c0001t0008g0206 a0001c0001t0011g0170 a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0019g0147 a0001c0001t0019g0176 a0001c0001t0026g0138 a0001c0001t0027g0172 a0001c0001t0030g0144 a0001c0001t0031g0200 a0001c0001t0033g0137 a0001c0001t0035g0177 a0001c0001t0037g0279	80	300	0.2667	-553	c.129 others(17): Show c.129-4165_129-3613del	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241807167	CGCAGGCC others(546): Show CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	314	0.0032	-553	c.30 others(11): Show c.3002_*3554del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2881		chr2	TogoVar
MGAT3_chr22_39452012_39497194	39468638	CAGGCCTG others(546): Show CAGGCCTGAGAGCCCTGCAGCATTGACTGGAAGGTGCGGGTGTGTGGATT TGGCGTGGTCATTTATTCATTCAACAAACTCAGGGTGAGCACCTTTTTTG TGTGGGGCTCAGTGCTTGAGGCTGGGGACCCAGGGGCATCAGACAGCACA GCCCTTGTGTGGGACAAGGGGTTCTGGGGAGTAGGCTGGGGTCAGGGAGG CCTGGAGAAGTGCAGCTCAGCCGAATCCTCCAGGAACAGGCACGGAGATT GAAGGGTGAGATTACACAGAAACTTCTGTGCCTCCTTGAGGGACTTGGAC TTTCTCCTGAGGGCAGCGGTTCCAAGCTGGGAGGGGCAGCATCAGATGTG GCTTTCGCTTGGCTCATGGGGGCCGGGTTGGGGGCCCATTGAGGAAGCTG CTGCCATTCCGGTGAGCGGTAGGCTTGGGGTTGGGAGATTTGGGAAGTGC GGGCAGTGGGACTGACTGCCTTGGTGGTGTGGGGAGGGGCCCAGAAGGGG GCAGGTGGGTGGGGAGGGGCCCAGATTTGGGAAGTGCGGGCAGTGGGACG GACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp2 NA19240.hp1 HG02145.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0027 a0001c0002t0002 a0001c0001t0011 a0001c0001t0027 a0001c0002t0002	a0001c0001t0011g0030 a0001c0001t0027g0030 a0001c0002t0002g0057 a0001c0001t0011g0030 a0001c0001t0027g0030 a0001c0002t0002g0057	3	306	0.0098	-553	c.-2+ others(17): Show c.-2+11084_-2+11636del	MGAT3	ENSG00000128268.12	transcript	ENST00000341184.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYT1_chr20_64159452_64247253	64175145	GTAGTTGT others(546): Show GTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 NA19240.hp2 HG02280.hp1 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0014 a0001c0002t0006 a0001c0001t0003 a0001c0001t0014 a0001c0002t0006	a0001c0001t0003g0020 a0001c0001t0014g0017 a0001c0002t0006g0019 a0001c0001t0003g0020 a0001c0001t0014g0017 a0001c0002t0006g0019	3	223	0.0135	-553	c.-99 others(19): Show c.-99+10421_-99+10973del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	164450	GGGGCTCA others(546): Show GGGGCTCACAGTAATGTTGTGACGGAGCAGAGCTCACACTAATGCTCTGA CAGGGGGCGGAGCTCACACAGTAATGCTGTGACAGGGGGCGGAGCTCACA CAGTAATGCTCTGACAGGGGGCGGAGCTCACACAGTAATGCTGTGACGGA GCGGAGCTCACAGTAATGCTGTGACGGAGCGGAGCTCACACTAATGCTCT GACGGGCGGAGCTCACACTAATACTCTGACAGGGGGCGGAGCTCACACTA ATGCTCTGACGGGGCGGAGCTCACACTAATACTCTGACGGGGCGGGGCTC ACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCG GAGCTCACACACTAATGCTGTGACGGAGCGGAGCTCACACTAATGCTGTG ACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACAG TAATGCTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGC TTACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGG GGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0010 a0019c0019t0010	a0019c0019t0010g0164 a0019c0019t0010g0164	1	210	0.0048	-553	c.347 others(18): Show c.3476+918_3476+1470del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNTG2_chr2_945849_1372613	1013260	GAGAGAAG others(546): Show GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGAT TTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTC TGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTT ATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGA GAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGA AGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTA GAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAT GGGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0002 a0003c0007t0002 a0001c0002t0002 a0003c0007t0002	a0001c0002t0002g0076 a0003c0007t0002g0075 a0001c0002t0002g0076 a0003c0007t0002g0075	2	190	0.0105	-553	c.72+ others(17): Show c.72+62198_72+62750del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
VAV3_chr1_107566161_107970180	107826812	TAATGTAA others(546): Show TAATGTAAAGAAAGAAACAAACGGAAAATAAAGGGTGTAATGTCAGCCCG AGTCTATATTTTTTAAAGCAGATAAACAGCTTAATATCTAAGCACTAAAT ATTATCACTTGTTTCAGTTTTTTATATTAAAAAGATAATATTTTAATAGT ATCTACCATTTGCTGTATAAATCTTATAAAAATATTTAGTAAAAAAATAT GAATGACCTAAAAGTTAGTATGCTGTAATAGTTTCTCATACTTTCTTTCA TGTATTTTTTGTCTTCTCCACAAAATTTTAATATGCATGTATTTTTAGTT TTATCTACCTGTTTTCTACCCTGAACTACCTATGACGACATTCAGTCAAG GGTCCTCTGAGCTAAATAAAATTTTCTGTGACTAAGCCAGACAGAGGTAA CATGAAAGAACTACTTACTACTATTAAGGAATGGAAAGGACAGCACTATT TGACACTTAGTTCTTCCCTTCTCTCAAATCCCTCTTCCTTCCTTATTCTC CAGGTGTGAGTTTAAAGAACAACTTACAAATGAGGTCACTGTTCCTTGTA CTTC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0132 a0004c0005t0001g0132	1	210	0.0048	-553	c.321 others(19): Show c.321+47536_322-47321del	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	2/26			chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2396178	GGGGGTGT others(546): Show GGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGG CGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGG CGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGG TGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAG GCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAG GCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGACACAAG GTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAA GGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAA GGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAA GGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACA AGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACA AGGC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0021 a0021	a0021c0044 a0021c0044	a0021c0044t0003 a0021c0044t0003	a0021c0044t0003g0264 a0021c0044t0003g0264	1	290	0.0035	-553	c.39+ others(17): Show c.39+21554_39+22106del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2396222	ACAAGGCG others(546): Show ACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCC ACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGAC ACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGC CATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGA CACAAGGCGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGA CACAAGGTGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCATAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG CCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGG ACACAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GACC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01891.hp1 HG02056.hp1 others(7): Show HG00597.hp1 HG01891.hp1 HG02056.hp1 HG02155.hp1 HG02572.hp2 HG02717.hp1 HG03195.hp1 NA18944.hp2 NA18947.hp1 NA19091.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0009c0026	a0001c0001t0001 a0001c0002t0001 a0002c0003t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0003 a0002c0003t0004 a0009c0026t0003	a0001c0001t0001g0014 a0001c0001t0001g0092 a0001c0001t0001g0160 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0092 a0001c0001t0001g0160 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0002t0001g0192 a0002c0003t0003g0161 a0002c0003t0004g0015 a0009c0026t0003g0078	10	290	0.0345	-553	c.39+ others(17): Show c.39+21510_39+22062del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1237064	GCCTCCGG others(545): Show GCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGC CTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT CCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCAT CTC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	106	0.0094	-552	c.136 others(19): Show c.1362-3771_1362-3220del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	82976267	AACAGGGC others(545): Show AACAGGGCCCCAGGACAGAGCCGGATTCCATCCTCCCAGGGGCTGGAGGC CACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCA GGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACT CCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGAC AGAGCCGGACTCCATCCTCCCAGGGGCCAGAGGCCACTTATGGGGAAACA GGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACT TATGGGGAACAAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGA CCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCAT CCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAG CCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCC CCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGA GAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp2 HG02486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0133 a0001c0001t0039g0260 a0001c0001t0002g0133 a0001c0001t0039g0260	2	266	0.0075	-552	c.460 others(19): Show c.460-11073_460-10522del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
DGKB_chr7_14140049_14907751	14211812	TTTTACTC others(545): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATT TTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT TTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTT TGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	148	0.0068	-552	c.212 others(21): Show c.2123-34213_2123-33662del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1404053	ATCCTCCT others(545): Show ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TCG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20300.hp1 HG02818.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0013 a0002c0006t0021 a0001c0003t0013 a0002c0006t0021	a0001c0003t0013g0007 a0002c0006t0021g0014 a0001c0003t0013g0007 a0002c0006t0021g0014	2	40	0.0500	-552	c.107 others(19): Show c.107-97306_107-96755del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565842	TGTCTGTG others(545): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	340	0.0029	-552	c.641 others(16): Show c.641-1240_641-689del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
MAD1L1_chr7_1810795_2237945	1903359	GAAGCACT others(545): Show GAAGCACTGTTCCAGGCAGCGAGGACACAGTGGCCTATGGAAGACGTTCT TGCGGAACTCATGATTGATGAAGCACTGTTCCAGGCAGCGAGGATGCAGT GGGCTACTGAAGACGCTCTTGCGGAACTCAAGATTGATCAAGCACTGTTC CAGGCAGCGAGGACGCAGTGGCCTATGGAAGACGCTCTTGCAGAATTCAT GATTGATGAAGCACTGTTCCAGGCAGCGAGCACGCAGTGGCCTATTGAAG AAGCTCTTGCAGAACTCATGATTGATGAAGCACTGTTCCAGGCAGTGAGG ACGCAGTGGCCTATGGAAGACGCTCTTGCGGAACTCATGATTGATGAAGC ACTGCTCCAGGCAGCAAGGATGCAGTGGCCTATGGAAGACGCTCTTGCAG AATTCATGATTGATGAAGCACTGTTCCAGGCAGTGAGGACACAGTGGCCT ATGAAAGATGCTCTTGCAGAACTCATAATTGATCAAGCACTGTTCCAGGC AGCGAGGACGCAGTGGCCTATGGAAGATGCTCTTGCGGAACTCATGATTG ATC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(24): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01255.hp2 HG01515.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG04228.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18963.hp1 NA18969.hp2 NA18981.hp1 NA18985.hp2 NA18990.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0001c0011t0001 a0004c0008t0001	a0001c0001t0001g0090 a0001c0001t0001g0169 a0001c0001t0001g0181 others(24): Show a0001c0001t0001g0090 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0006t0001g0237 a0001c0007t0004g0078 a0001c0007t0004g0079 a0001c0007t0004g0080 a0001c0011t0001g0244 a0004c0008t0001g0194	27	264	0.1023	-552	c.180 others(19): Show c.1808-5521_1808-4970del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1904862	AGAACTCA others(545): Show AGAACTCATGATTGATGAAGCACTGTTCCAGGCAGCAAGGATGCAGTCGC CTATGGAAGACGTTCTTGTGGAACTCATGATTGATGAAGCACTATTCCAG GCAGCAAGGACACAGTGGCCTACGGAAGACGCTCTTGAGGAACTCATGAT TGATAAAGCACTGTTCCAGGCAGCAAGGATGCAGTGGCCTATGGAAGACG TTCTTGTGGAACTCATGATTGATGAAGCACTGTTCCAGGCAGCGAGGACG CAGTGGCCTACGGAAGACGCTCTCGCGGAATTCATGATTGATGAAGCACT GTTCCAGGCAGTGAGGACGCAGTGGCCTACGGAAGACGCTCTTGCGGAAT TCATGATTGATGAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTACG GAAGACGCTCTTGCGGAACTCATGATTGATAAAGCACTGTTCCAGGCAGC AAGGATGCAGTGGCCTATGGAAGACGTTCTTGTGGAACTCATGATTGATA AAGCACTGTTCCAGGCAGCGAGGATGCAGTGGCCTACGGAAGACGCTCTT GTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(58): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02615.hp1 HG02735.hp1 HG03239.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0009 others(1): Show a0002c0002 a0002c0005 a0002c0009 a0002c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(58): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0086 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0005t0001g0240 a0002c0009t0001g0096 a0002c0012t0001g0044	61	264	0.2311	-552	c.180 others(19): Show c.1808-7024_1808-6473del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
SCUBE1_chr22_43192280_43348372	43280954	CCCTCTTT others(545): Show CCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCT CCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCC TCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCC TCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCA GCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCAC CCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCT TCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCT GTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTC ACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCAT CTCCCTCAGCCACCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCA CCT	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	280	0.0036	-552	c.484 others(18): Show c.484+9540_484+10091del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SMYD3_chr1_245744347_246512279	245975031	CCGGCCCA others(545): Show CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	150	0.0067	-552	c.532 others(19): Show c.532-45646_532-45095del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
UST_chr6_148742030_149081990	149055029	TCAATCCT others(545): Show TCAATCCTTTACACTTCGAGCTGAAAGGACGGCAGTCAGCCCAGCCAGGA GGTTACCTCAGCATAGACCAAGTAAATAAATCATTTGGTAGAAGCCATTT GAGAGTAAAGGTTACTAGAAAGTCATAAATCAACCAGCAAGTCGATGTAT GGTTTTGCTAGAATGTAGGAGCAATTAGAAATTTTTAGAAATATTTCTTT AACTGTGCGTGACTTGAGGAAGAGGACTATGACCTAACTAACCAGTTACT ATTATTATATCAAAATGAGATTTTAAAAAATACAGTATGGATTTAATGCC GGTTCACTTATTCAGTTTTATGCAGTTAAGTTGTTGTTTTTAGAACATTA TGAAATTTCATTTCATGCCCCAATAAAACTAAACTAAAATGGAATGGGTT ACAGCTTTTCCATTTGTTGACTTTTCTCTTTCAAACATCTTTGATTTTCC ATTCATTGAACACACTTTTTAAGAATGCTTTGAATGTCATTCAAGTTACC CGTTTCTCCTGTCCCCTCCCCCACCTGTCTCTAATGCAGTTTCCAAAGTG AAC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18948.hp1 NA18947.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0061 a0002c0002t0001g0168 a0001c0001t0001g0061 a0002c0002t0001g0168	2	210	0.0095	-552	c.938 others(19): Show c.938-18796_938-18245del	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VPS53_chr17_503668_719839	513804	CGAAGGAA others(545): Show CGAAGGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAA GGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAA TCTCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCC ATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTT CCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAG CAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAATCTCATTTCCAGCAGG TTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTAT TCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTCCG AGTGCTCTTCCTAGCGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTG CTCTTCCTAGGGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCT TCCTAGGGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCT AGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0147 a0001c0001t0098g0147	1	232	0.0043	-552	c.47 others(11): Show c.4772_*5323del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	4772		chr17	TogoVar
ZC3H3_chr8_143432659_143546447	143487405	CCACCACG others(545): Show CCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCAC CACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCACG AAGCTCACACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGC TCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAG ACACAGAACAGCACCCGCTACACGACCCCACCACCACGAAGCTCACACAC AGAACAGCACCCGCTACACGACCCCATCACCACGAAGCTCACACACAGAA CAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAGAACAGC ACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCC GCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTC CACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTCCACG ACCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACAGCCC CAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0052 a0013c0016t0002g0052	1	352	0.0028	-552	c.171 others(21): Show c.1716-12372_1716-11821del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143487451	CCACCACG others(545): Show CCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCAC CACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCATCACCACG AAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGC TCAGACACAGAACAGCACCCGCTACACGACCCCACCACCACGAAGCTCAC ACACAGAACAGCACCCGCTACACGACCCCATCACCACGAAGCTCACACAC AGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAGAA CAGCACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGC ACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCC GCTCCACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTC CACGACCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACA GCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CAT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0100 a0006c0006t0001g0100	1	352	0.0028	-552	c.171 others(21): Show c.1716-12418_1716-11867del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ADARB2_chr10_1172313_1742525	1699261	CGGGAGAC others(544): Show CGGGAGACCGGGCACTCGCCAATACACGCAATCCCACTCCACCGGGAGAC CAGGTGCTCACCAGTACACGCAATCCCACTCCACCGGGAGACCAGGCGCT CGCCAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTCGCCAATA CACTCAATCCCACTCCACCGGGAGACCGGGCACTCGCCAATACACGCAAT CCCACTCCACCGGGAGACCAGGTGCTCACCAGTACACGCAATCCCACTCC ACCGGGAGACCAGGCGCTCGCCAATACACGCAATCCCACTCCACCGGGAG ACCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGACCAGGCG CTCGCCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAA TACACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCA AACCCACTTCCACCAGGGAGACCGGGGCACTCGCCAATACACACAATCCC ACTCCACCGGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCAC CG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02622.hp2 others(6): Show HG01884.hp1 HG01884.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02897.hp2 HG03209.hp1 HG03540.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0049 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0049 a0001c0003t0001 a0001c0007t0033 a0002c0002t0021 a0002c0002t0038 a0002c0014t0008	a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0049g0040 a0001c0003t0001g0070 a0001c0007t0033g0041 a0002c0002t0021g0035 a0002c0002t0038g0048 a0002c0014t0008g0060	9	106	0.0849	-551	c.100 others(19): Show c.100+37239_100+37789del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	82975286	GAGGGCCC others(544): Show GAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGGCTGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAG AGCCGAACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGG CCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATG GAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAG AGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTC CCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGG ACTCCATCCTCCCAGGGACCAGAGGCCACTATGGGGAACGAGGGCCCCGG GACAGAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAA AC	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0226 a0001c0008t0005g0226	1	266	0.0038	-551	c.460 others(18): Show c.460-10091_460-9541del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
DGKB_chr7_14140049_14907751	14211877	TTACTCTC others(544): Show TTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA TTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGT GTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGT GA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01993.hp2 HG00597.hp1 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0020 a0001c0004t0001g0032 a0001c0002t0002g0020 a0001c0004t0001g0032	2	148	0.0135	-551	c.212 others(21): Show c.2123-34277_2123-33727del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805673	TCCCCCCT others(544): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCC CCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	314	0.0032	-551	c.15 others(11): Show c.1508_*2058del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1387		chr2	TogoVar
GUCA2A_chr1_42157690_42169745	42166583	ACTGAGGT others(544): Show ACTGAGGTGTGTGTGTGTATGCTGAGCTGAGTGCATCTGCTGTGTTGTGC GTGTGTGTGCCGAGGTGTGTGTATACACTGAGGTGCATGTATGCGCTGAG GTGTGTGTGTGCTGACGTGTGTGAGTGCTGACGTGTGTGTATACACTGAG GTGCGTATGTGTGCTGAGGTGCGTATGTGTGCTGAGGTGTGTGTGTGCTG ACGTGTGTGTATACACTGAGGTGTGTGTGTGTGCTGAGGTGTGTGTGTGT GCTGAGCTGTGTGTGTGCTGATGTGTGTGTATACACTGAGGTGTGTGTGA GTGCTGATGTGTGTGTATACACTGAGGAGCGTGTGTGTGCTGAGGTATGT GTGCGCTGATGTGTGTGTATACACTGAGGTGCGTGTGTGTGCTGAGGTGT GTGTGTGCTGACATGTGTGTATACACTGAGGTGCGTGTATGTGCTGAGGT GTGTGAGTGCTGACGTGTGTGTATACACTGAGGTGTGTGTGCGCTGACGT GTGTGTATACACTGAGGTGTGTGTGCTGACGTGTGTATACACTGTGTGTG TG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG03239.hp1 HG01255.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	436	0.0046	-551	c.-24 others(11): Show c.-2422_-1872del	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		1839		chr1	TogoVar
ITGB5_chr3_124756948_124892365	124789700	TCAGAACC others(544): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATC AGAACCGCCTCTGACTAGACAGGGTTAACAGAACCGCCTCTGACTAGACA GGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTG ACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAAC CGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTT AA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0012 a0001c0022t0012	a0001c0022t0012g0002 a0001c0022t0012g0002	1	352	0.0028	-551	c.169 others(19): Show c.1693+6137_1693+6687del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
KALRN_chr3_124028369_124731325	124367619	GCGGCTGG others(544): Show GCGGCTGGCCGGGTTGGGGGGCTGACCGCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGTCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACTTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAG CA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03688.hp1 HG03471.hp2 HG03688.hp1	a0001 a0001	a0001c0023 a0001c0050 a0001c0023 a0001c0050	a0001c0023t0007 a0001c0050t0005 a0001c0023t0007 a0001c0050t0005	a0001c0023t0007g0039 a0001c0050t0005g0042 a0001c0023t0007g0039 a0001c0050t0005g0042	2	116	0.0172	-551	c.177 others(21): Show c.1771-17213_1771-16663del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	10/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
NT5C2_chr10_103083038_103198272	103129085	GCCCCCCA others(544): Show GCCCCCCACCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCC GTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCTCTCCGCCCGGCCAGCCGCCCCGTC TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCA GCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	340	0.0029	-551	c.175 others(18): Show c.175+9770_175+10320del	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
RNF145_chr5_159152409_159214553	159171560	TTTATAAA others(544): Show TTTATAAAGTTTTTCTTTGCTCTCTCTTCATTCAGTAACTCATTTTTATT AAATCTTAATTTCTATTTTCTGGCTGCAAAAAAAACCTTTTTTTTGATTT GCAGTTTGATCTGGTGTGCTTTATTGTTGGTTGGTGTGTTTGTTTAGTCA GGGTATTCTGGTAAGCTCCCAATCTCTTTTTCTAAATAAGTTGTTTTTTT GGCAAAGAAACATAAACATTACCAGGCACACAAAAGCATGGATAAGAACA GAGAATAACTCTTACAGAGATATAAATTAACAAAAGAACCAATATGAGAA CTTCTCAAAGCAAATTACAACATTCTTATCATGAAAAAAGGCAATCTATC CTGGCGAGGCATAGAAAAAGAAAAGAAAAAAATTATGTTAGCAAGATATC TAAACTTCACAGAATATCCGAATATTATTTTCTTACTTTGTAAATAAGTC CAAATGCATTCATGGCTTAGTAAATTGTTAAGCCTACTGCACTATGCTAT ACCTCATCTTACTGTGCTTTGCAGCGGGTAACAATCTGGTTTAAAGCACC AC	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19090.hp2 NA19001.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0183 a0001c0001t0001g0147 a0001c0001t0001g0183	2	394	0.0051	-551	c.797 others(17): Show c.797+1872_798-1742del	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	6/10			chr5	TogoVar
RTL8C_chrX_135027355_135038546	135027472	TTAAAACC others(544): Show TTAAAACCACAGTGAGTAGTGCCGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCGGCACTATTCAC AATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGA TTAAGCAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAA AATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCAT CATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCT CACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGG AATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATA GCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCCC ACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACA TGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAATAAAAAAAAAA AA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(64): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02083.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18950.hp2 NA18957.hp2 NA18966.hp1 NA18980.hp1 NA18995.hp1 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19075.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0006g0000	67	298	0.2248	-551	c.-49 others(11): Show c.-4911_-4361del	RTL8C	ENSG00000134590.14	transcript	ENST00000257013.9	protein_coding		4882		chrX	TogoVar
SPANXD_chrX_141692411_141703739	141696477	GGTCAATT others(544): Show GGTCAATTCAAAGACAGAAACTAAAACCCCATCCACGGGTGACTCCATGG TGAATCCCTGTGGTGTCTTTTCCCGCTAACCGATGTGTATCCACCAAGCA GTTTTATTTTTCAGTATAAATATTATACTGTTTGACATTTTAAGACACAT TGTAATCAAAATCTATAGCCTTAATTAAATGATGAATTTCAGGAAATTAT CATGCAAAATGGAAGTGTTAGGAAGCCGATAATAGACACACTCTCCTAAA AATGATCTCACCACATCACACCTAACCCTTCTCACCACCTTGCAGTTCAC ATTCCATGGGAAAAAGTTCCTCATACTTAAGAGTGTTTTACTTTCCTTTT CCCAAGTCATGGCGATTTTGAATATTCACACTTCGCGGATATCAACACAT TTCTAAAGTATACTTATCTTGATTAAAGACTGCTGAGGTCATTAAAACAC TAACAAATATTTCAGATGCATTGAACATTTTGTTTTAGAATTGGCTTTTC AATCATTTCATCACAAGCAATGCTTTCCTGCCGTTTACTTACTCCTACAT CT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG06807.hp1 HG02280.hp2 HG02451.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	3	334	0.0090	-551	c.43 others(9): Show c.437_*987del	SPANXD	ENSG00000196406.4	transcript	ENST00000370515.3	protein_coding		933		chrX	TogoVar
TAS2R7_chr12_10796532_10807627	10799894	TTTACATG others(544): Show TTTACATGAAAAATTTGAAGTCCATTCTAATGGCCTGGGGAGAGACTCTG TGTAGGAGGAAGGATATAATACATGCCCAGAGTACATGAGAGAGCTAATG AATTATGCCACCAAAGAAGTGGCAGAATTGAGTAAGTGAGTCAACCAACA ATTTTGTTGTTCAAAGAAAACTTTTATGCTTAATGATTTTTTTCCCCTGT TTCTGACTTGTCAATGACCCTTCTACTGAGTTTATGATGTCATTTCAAAC TTCATTCTTTTTCTCTTCTTTCTTTGAAGGAGGCTTTCAAGAGGAAGATG AAAAGACCTAACTACCATGTGAGCTATTTTGAGTTCAATTAAGTTATTAA GAATTGTTCTAAATGGATTCAACGAACCTCTGGGTTACTGTTCTAATAAA ACATTTCTACAAGTTTTTACTGTAATACAAATAATCATGTTTAACCATGA AAACTTTTTTTCTCTCTTTATTTACAAATATTTTCTTTTTTGTACACAAA GTTCCTGGCTACTCTAGGCTGGTTAGTACAGGGTTGATCACCCTAAAATA TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	407	0.0025	-551	c.11 others(11): Show c.1169_*1719del	TAS2R7	ENSG00000121377.2	transcript	ENST00000240687.2	protein_coding		1637		chr12	TogoVar
USP34_chr2_61182463_61476087	61413445	GCCTGTAA others(544): Show GCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGACTGCCTGAGC TCAGGAGCTCGAGACCAGCCTGGGCAACATGGGGAAACCCCGTCTCTACT AGATACTCAGGAGGCTGAGGCAGGAGAATTGCCTGAACCTGGAAGGCAGA GGCTGCAGTGAGCCACGATCACGCCATTGCACTCCATCCTGGCAATACAG TGAGACTCAGTCTCAAAAAAATTAAAAAAATAAAAAATAAAAAAACAAAA GAGGCCGAGTGAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCA AGGCGGGTGGATTGCCTGAGCTCAGGAGCTCGAGCCCAGCCTGGGCAACA TGGGGAAACCCCGTCTCTACTAGATACTCAGGAGGCTGAGGCAGGAGAAT TGCCTGAACCTGGAAGGCGGAGGCTGCAGTGAGCCAAGATCGCGCCATTG CACTCCATCCTGGCGATACAGTGAGACTCAGTCTCAAAAAAATTAAAAAA ATTAAAAAAATTAAAAATAAAAAAACAAAAGAGGCCGAGTGAGTGGCTCA CA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0232 a0001c0011t0001g0232	1	312	0.0032	-551	c.131 others(17): Show c.131+6750_131+7300del	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	2/79			chr2	TogoVar
ANKS1B_chr12_98738974_99989936	99425354	TTTATTCT others(543): Show TTTATTCTAATTCTTTTCTGTTATAAATAGTAGTACAATGAATTATTTTA CAGAATTGTTTCCTCTTTCTGGGCATTTCATTGGTACAGACAAGAAAGTA CTAGACGAAAAGTAGTATGTTTTTCAAGATTCTTGATTCACATTACCAAG AAAATGTATAGAAACATTTCCACCATTGTTCTACAAGACTATCAGTCTGT GCCTGCATCACCATGAATTTACCATGCATTTGCTAAGCACAGGATATATT TTTGTTTTTAAAAAGTTTTAACTACTTCTTAGGTTATGTTATAACTTTAT TGTGCATTTCCTTGATATTCAGCGCCATTAATCATTTTTCCTTTTATTTA TTATTATTCTTTTTCTTTCTTAAATTGGGTATTTATATTGTTTGTCCATT TTCCTCTGTGGATGTGTTAGTCTTCTTTGTGGCCTTCTAAGAGCTCTTTG CATATTAAAATTTTAACAGTTTCACTGTTTATATTTATCTCTATAGCATT AGTTACTTGTTTTCTATTTTAATAAAGTTTTTTTGATGCAAGGCAACTTA A	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	48	0.0208	-550	c.157 others(21): Show c.1575+17769_1575+18318del	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	11/26			chr12	TogoVar
CDH4_chr20_61247261_61945617	61942997	TGAGGAGC others(543): Show TGAGGAGCACTGCGACTGTCTGCACCATGGCCGCCCCTTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCCTCTGCACCGTGGCCGCCCCCTCTCACCGACGA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0037 a0001c0007t0010g0037	1	106	0.0094	-550	c.60 others(11): Show c.6055_*6604del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2381		chr20	TogoVar
CXCL16_chr17_4728533_4744928	4737417	AAAAAATA others(543): Show AAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGCAATCCCAG CTACTCGGAAGGCTGTGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGG CTGCAGTGAGCTGAGGGCACCATTGCACTCCAGCCTGGGCGACAGAGCAA GACTCCATTAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATCAAGAAAT AAGGTGATGGATGATGGATAGAAGAATGAATAGATGGATACTTAATAAAG CAAATATCGTGTAATTGCTGTAAAATTGATAGTGTAAAATATATGTTTAT GTAAATATGTAAAATATACATATATAAATAAAATTGTAGAATCTAGGTGG AGGCACTGGATATTCAGTGTGCCATTCTTTCAACTTTTGTATATGTGTAA ATTTTCATAATAAAATATTGGAAAAGAAAAATAGGCCAGGTGTGGTGGCT CACGCCTGTAATCCTAGCACTTTTGGAGGCCGAGGCGGGTGGATCACAAG GCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTAC T	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02965.hp1 others(4): Show HG02451.hp2 HG02723.hp2 HG02965.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	7	438	0.0160	-550	c.301 others(15): Show c.301+441_301+990del	CXCL16	ENSG00000161921.17	transcript	ENST00000293778.12	protein_coding	3/5			chr17	TogoVar
DBNDD1_chr16_89999871_90024456	90003460	CGGCCCGG others(543): Show CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGA TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGG ACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG02015.hp2 HG02145.hp1 others(3): Show HG01070.hp2 HG02015.hp2 HG02145.hp1 HG02572.hp2 HG02622.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0203 a0001c0001t0003g0056 a0001c0001t0003g0149 others(3): Show a0001c0001t0001g0203 a0001c0001t0003g0056 a0001c0001t0003g0149 a0001c0001t0003g0173 a0001c0001t0003g0222 a0001c0002t0001g0003	6	412	0.0146	-550	c.23 others(11): Show c.2325_*2874del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1410		chr16	TogoVar

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Search Results (Total: 10000 hits)