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
TAFA5_chr22_48484553_48756932	48667777	TAATCCCC others(607): Show TAATCCCCCAGCACTCAGGACCGCGTCTTCACCGGGAGCGTTAATCCCCC AGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCAG GACCGCGTCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAGGACCGCGTC TTCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACTGGG AACTGTAATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAAT CCCCCAGCACTCAGGACCGCGTCTTCACCGGGAGCGTTAATCCCCCAGCA CTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCAGGACC GCGTCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAGGACCGCGTCTTCA CTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACTGGGAACT GTAATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCC CAGCACTCAGGACCGCGTCTTCACTGGGAGTGTTAATCCCCCAGCACTCA GGGCCGCATCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAGGGCCGCGT CTTCACTGGGAGCTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0237 a0001c0001t0002g0194 a0001c0001t0002g0237	2	258	0.0078	-614	c.262 others(19): Show c.262+21032_262+21645del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3			chr22	TogoVar
MYOM2_chr8_2040046_2150456	2085617	GCCCCCCA others(606): Show GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCC ACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT GTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCT CTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTG ATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATG ATCTCTTTGTGGCC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18972.hp2 NA19005.hp2 NA18949.hp2 NA18972.hp2 NA19005.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0003c0152 a0006c0198 a0001c0003 a0003c0152 a0006c0198	a0001c0003t0002 a0003c0152t0001 a0006c0198t0001 a0001c0003t0002 a0003c0152t0001 a0006c0198t0001	a0001c0003t0002g0368 a0003c0152t0001g0370 a0006c0198t0001g0163 a0001c0003t0002g0368 a0003c0152t0001g0370 a0006c0198t0001g0163	3	403	0.0074	-613	c.164 others(17): Show c.1644+232_1644+844del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS17_chr6_152999459_153136282	153105097	GGGCCAAT others(606): Show GGGCCAATGTAAGGACTTTGGGATTTACACAGAACTAAATGATGACCTTA GGGACAGCAGCCTCATGGAATTCAGAACCCAGTCAGGTTCAATAACTCTG TCCTAGGCATCCCAAATACGTCTACTTCATCGTCCAATTTAATCTCAGGC TACCTGCCATGTAGTTGTTGTTCTGTCTACCTTGTTGCTGTGCTATAAAC TGTGGCTTATTCTAGAGAGGGTTGACAGCTCCATGGACAGCTAACAAATA AATATTTATTAAGGACCTATTATCTGTGCTGGGCATTTAGAAAAGCGCCT ACCGCATCCTGCTGCCACCCCGGGCTCAGCCTCCTACCAAAAATAAAATA AAATAAAAAATAAAAAGATGATTTAGTTGCCACTCACAATGAGCTTATAA CTTAGCTGTGAAATCATGAAGGTCTATACCAAGTGTTCGCTGCTGGAGAG GCAAGCTCAGAATTATGATCATGCCAGGAGTAGCCAGAGACAGTTTAATT TAAAAAAATGCTTGAGGTGAGGTCTGGCAGCAGTATGTAAGGTGAAGTCT TCCAAGTGGATGAAGGCAGGTAAAACATCTCATCCAGAGGTGACAGCATG GACAAAAACAAGGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	338	0.0030	-613	c.-26 others(19): Show c.-26+25414_-26+26026del	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79920962	CGGGAACC others(606): Show CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAG AGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGA GGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAAC CGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGG AACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAG AGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCA GAGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0278 a0001c0001t0007g0278	1	352	0.0028	-613	c.392 others(17): Show c.392-2175_392-1563del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SPACA5_chrX_48001988_48014733	48012052	AAGCACTT others(606): Show AAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAAGTCAGGAGTTCG AGACCAGCCTGGCCAACATGACAAAAACCCATCTCTACTAATAACTCACA CACACACACAAATAGCCATGCGTGGTGGCACACACCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCATGAGAATCACTTTAACCCAAGAGGCGGAGGTTG CAGTGATCCAAGATTATGCCACTACACTCCAGCTTGGGCGACAGAGTGAA ATTGTGTCTCAAAAATACATAAATAAATAAAAATAAAATAGGGGAGAGAA GGTAAAAATAGGTTTAGGGAGCCATGAACAGGGGAAAGGGAGATTAGAAG GGTAGCAGATCCACGATTTGTGGGGAGAAGGACTCAAATAGAACGCAAAT AGCCTTTTAGGAAAGCTGGAAACAAATGAGGTGACCAAGAGAATAAGCAG AAGGACGAGGCCAGATTGTGGTGAGGCTAGCTCTTCACCATCTCACTCCA ACATTACTGTGAGAGAATAGCTCACAAAACTAACAATTTACAGTTAGCAA CAGAAGTTCATATCCTTTAAGAAGACATTTCTGGCCGGGCGCAGTGGCTC ACGCCTGTAATCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01433.hp1 HG02015.hp1 others(3): Show HG00597.hp2 HG01433.hp1 HG02015.hp1 HG02257.hp2 HG03516.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	6	292	0.0206	-613	c.24 others(11): Show c.2408_*3020del	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		2320		chrX	TogoVar
XXYLT1_chr3_195063284_195276159	195065346	GGTGATCT others(606): Show GGTGATCTGTGGGCGGGCTGGGGTGTGATCTGTCGGCGGGCTGGGGTGCC TGTGCGGTGATCTGTCGGGCTGGGGAGTGATCTGTCGGGGGGATGGGGTT TGAACTGTCAGCAGGCTCGGGTGCCTGTGCAGTGATCTGTCAGCGGGTTG GGGTGTGACCTGTGGGCGGGCTGGGGTGCCTGTGCGGTGATCTGTGGGCG GGCTGGGGTGCCTGTGCGGTGACCTGTGGGCGGGCTGGGGTGCCTGTGCG GTGATCTGTCGGCGGGCCAGGGTGTGATCTGTTGGCGGGCCGGGGTGTGA TCTGTTGGCGGGCCGGGGTGTGATCTGTCGGCGCTCTGTGATCTGTCAGC GGCCTGGGGTGTGATCTCTCAGCGGGCTGGGGTGCCTGTGCGGTGATCTG TTTGCGGGCTGGGGTGTGAGCTGTCGGCGGTCTGGGGTGTGATCTGTCGG CGGTCTGGGGTGTGATCTGTCGGCGGTCTGGGGTGTGATCTGTCAGCGGG CTGGGGTGCCTGTGCAGTGATCTGTCGGGGGGCTGAGGTGTGATCTGTGG GCGGGCTGGGGTGACTCTGCAGTGATCTGTCGGCAGGCTGGGGTGTGATC TGTCGGGCTCGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00673.hp2 others(33): Show HG00408.hp1 HG00642.hp1 HG00673.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03471.hp2 HG03540.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18960.hp2 NA18990.hp1 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028	a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0033 others(33): Show a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0033 a0001c0001t0003g0043 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0170 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0005g0005 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0010 a0001c0001t0005g0053 a0001c0001t0005g0057 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0005g0142 a0001c0001t0005g0149 a0001c0001t0014g0026 a0001c0001t0014g0080 a0001c0001t0016g0019 a0001c0001t0016g0134 a0001c0001t0028g0056	36	198	0.1818	-613	c.37 others(11): Show c.3756_*4368del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		2937		chr3	TogoVar
ARHGAP39_chr8_144524179_144690846	144624631	TCACTGCA others(605): Show TCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCA CTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGC ACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAG CACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGA GCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGG AGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACG GAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCAC GGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCA CGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTC ACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTT CACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGT TCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCG TTCACGGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03579.hp1 NA21309.hp1 HG02300.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0017t0001 a0001c0002t0001 a0001c0017t0001	a0001c0002t0001g0015 a0001c0002t0001g0115 a0001c0017t0001g0064 a0001c0002t0001g0015 a0001c0002t0001g0115 a0001c0017t0001g0064	3	246	0.0122	-612	c.-81 others(19): Show c.-81-19548_-81-18937del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144624682	TCACTGCA others(605): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCA CTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGC ACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAG CACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGA GCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGG AGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACG GAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCAC GGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCA CGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTC ACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTT CACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGT TCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCG TTCACGGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(75): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18984.hp2 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19009.hp1 NA19056.hp2 NA19074.hp2 NA19082.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0015 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0007t0003 a0001c0012t0002 a0001c0015t0001 a0001c0018t0001	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0097 others(75): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0170 a0001c0001t0007g0168 a0001c0002t0001g0013 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0147 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0200 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0242 a0001c0002t0019g0125 a0001c0002t0022g0217 a0001c0002t0023g0246 a0001c0003t0001g0110 a0001c0007t0003g0118 a0001c0012t0002g0128 a0001c0015t0001g0101 a0001c0018t0001g0230	78	246	0.3171	-612	c.-81 others(19): Show c.-81-19599_-81-18988del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625025	GGTTCACG others(605): Show GGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCC CGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGC CCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGG CCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCG GCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGC GGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCC GGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCATCCCCTGTCC CCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	246	0.0041	-612	c.-81 others(19): Show c.-81-19942_-81-19331del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758113	ACTCATTC others(605): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGATCCACCC TAACTCATTCCAATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	300	0.0033	-612	c.654 others(19): Show c.654+22294_655-21973del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	82975152	TTATGGGG others(605): Show TTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAG AGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGG CCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATG GAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGG AGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGAACTCCATCCT CCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCG GACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCG GGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAG TCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCC ACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGG GACCAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0222 a0002c0010t0007g0222	1	266	0.0038	-612	c.460 others(18): Show c.460-10018_460-9407del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BRF1_chr14_105204286_105306001	105237816	ACAGCCCT others(605): Show ACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCA GGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGG GGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCT CAGGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCG GGGGACAGCCTGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	72	0.0139	-612	c.694 others(17): Show c.694+2837_694+3448del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C2CD4C_chr19_400445_414147	404450	GGGACGGG others(605): Show GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGCACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGG TCTGAGGGGGAGACGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGG TCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGT GGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCC TGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGG AGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGG GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCC CTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGG GATGGGGTCCTGCCCTGAGGGGTGTGAGGGGAACGGGGTCCTGCCCTGAG GGGTGTGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02132.hp2 HG00609.hp1 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	322	0.0062	-612	c.20 others(11): Show c.2034_*2645del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		994		chr19	TogoVar
C7orf50_chr7_992006_1143247	1116473	TTCTAGGA others(605): Show TTCTAGGACCAGCTTCCATCACCGACGCCCACGCAGGATGATGACATCAC TGCAGTTCTAGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGAC ATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGAT GATGACATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGTCCACG CAGGATGATGACATCACTACAGCTCTACGGACCGGCTTCCATCACCGACG TCCACGCAGGATGATGACATCACTACAGCTCTACGGACAGGCTTCCATCA CCAACGCCCATGCAGGATGATGACATCACTACAGATCTAGGGACCGGCTT CCATCACCGACGCCCACGCAGGATGATGACATGACTGCAGCTCTACGGAC CGGCTTCCATCACCGACGTCCACGCAGGATGATGACATCACTGCAGTTCT AGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCA GTTCTAGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAGCA CTACAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTACAGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG03453.hp1 HG01243.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0012g0292 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0012g0292	3	326	0.0092	-612	c.129 others(19): Show c.129+10172_129+10783del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
DTNB_chr2_25372243_25678577	25535368	TCCTCCCA others(605): Show TCCTCCCAGACGGGGAGGCCGCGCAGAGGTGCTCCTCACCTCCCAGAGGG GGCGGCCAGGCAGAGGCGCTCCTCACCTCCCATTCGGGGCAGCCAGGCAG AGGCGCTCCCCACTTCCTCCCAGACAGGGTTGCTGGGCAGAGGCGCTCTT CACTTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACG ATGGGCGGCCACGCAGAGATGCTCCTCACTTCCTAGACGGGGTGGCAGCT GGGCAGAGGCGCTCCTCACCTCCCAGACAGGGCGGCCGGGCAGAGGGGCT CCTCACATCCCAGACAATGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCT AGACGGGGTGGCTGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGGGT GGCCAGGCAGAGGCACTCCTCACTTCCCATTCAGGGCAGCCGGGCAGAGG TGCTCCTCACTTCCTCCCAAACGGGGCGGCCGGGCAGAGGCGCTCCTCAC CTCCCAGAGGGGGCGGCCAGGCAGAGGTGCTCCTCACCTCCCATTCGGGA CAGCCAGGCAGAGGCGCTTCTCACTTCCTCCCAGATGGGGCAGCCGGGCA GAGGCGCTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03579.hp2 others(2): Show HG02280.hp1 HG02572.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0002t0001g0021	5	168	0.0298	-612	c.877 others(17): Show c.877-4383_877-3772del	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	8/20			chr2	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(605): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	350	0.0029	-612	c.25 others(11): Show c.2552_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
OR2T6_chr1_248370746_248396811	248383843	TGTGTTTC others(605): Show TGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGT GTGCTCATCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAG CACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAGTG TTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGTTCATCCTATC CTGAAGTGTTTCCTAGTGTTATCATCATGGGTAAAGCACTGCACTAGCCT GAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATTGTCATGGGT AAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCT AGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCC TCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTA GCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCAT GGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGGTGTGTT TCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTC ATCCTCTCCTGAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG03139.hp2 HG01884.hp1 HG01891.hp1 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0063 a0002c0002t0005g0006 a0002c0002t0005g0063	3	403	0.0074	-612	c.-15 others(17): Show c.-158-857_-158-246del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIK3C3_chr18_41950234_42092830	42005746	CAAATTAA others(605): Show CAAATTAAATATTTATTAAAGTTGATCATTGTATGTGTGTATTTAATTAT GGTGAAATTTAAACACTAAAGTAAATAGTATAATGAACCCCAACAAATAA TTCATCTGTCTTCAGCAGTTGCCAATTTATAACCAATCTTGTTTCATCTG TAACACTGCTCAGTCTCTCCACCCCAACCCCCTAACCTCTACTAGATTAC ATCCTTCTGACTTCTGGCCTACTGGCTTTAACAAATCAGGGGGCTCCCAT AACCCTCTCCTTGGGTGTGATAATTTGCTAGAATGACTCACAAAACTCAG GGAAACATTACTTACTATTGATTTATTATGAAGGGTATCCTAAAGGATAC AGAAGAACAGCTAGATGAAATGATAATTTGCCAGAATGACTCACAAAACT CAGGAAAACATTACTTACTACTATTGATTTATTATGAAGGGTATCCTAAA GGTTGCAGATGAACAGCTAGTTGAAATGACACATGGGTTGAGGTCCTGAG CACAGGAGCTTCTGTCCCCATGGAGTTTGCAGTATAGCACCCTCCTGGCA TGTGGGTGCATTCTTCTTCACCAACCCAAAAGCTCTCAGAATGCTGTGCT TTTCTGAGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01109.hp2 others(58): Show HG00423.hp1 HG00438.hp1 HG01109.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG03491.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA18994.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0032 a0001c0001t0037 a0001c0001t0042 a0001c0001t0052 a0001c0001t0060 a0001c0001t0061	a0001c0001t0001g0220 a0001c0001t0001g0269 a0001c0001t0001g0270 others(58): Show a0001c0001t0001g0220 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0005g0218 a0001c0001t0005g0280 a0001c0001t0007g0257 a0001c0001t0007g0300 a0001c0001t0032g0290 a0001c0001t0032g0306 a0001c0001t0037g0311 a0001c0001t0042g0284 a0001c0001t0052g0219 a0001c0001t0060g0221 a0001c0001t0061g0271	61	340	0.1794	-612	c.117 others(19): Show c.1170+1206_1170+1817del	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	10/24			chr18	TogoVar
PRR14L_chr22_31676347_31755132	31735334	GGGAGGCT others(605): Show GGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAG TGAACTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGAAT CTGTCTCAAAAAAAAAAAAAAGAACACTGAGATAGTAATCTAGTTCTTAG GTTGATTGTTATGTAAGCATGTGTATGTATATGTATGCATATATAAACAC ATATATACATGTGTGTGTTCATTATACTTTATGTGTATTACGCATGCTTT TATATCAAACATTACATTAAAAAACTTTTCTCTCCTGAAGTGGCAGGTCC CTAAATTGGAAAAAAAAAAAAAAAGAAACTTTTCTTGTTAGACTCAGCCC ACCACATCAAGAAGTAACACAATAGGAACTCTGGGATCCTTAGCCTTTTA CCTATTTAACTGTATTTTTAAAAGATAGGGCATTGGCCGGGCGCAGTGGC TCACCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGCGGATCACCTG AGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCT ATTTAAAAAATACCAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAG TCCCAGCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02647.hp1 others(2): Show HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG03540.hp2	a0005 a0016 a0005 a0016	a0005c0009 a0016c0016 a0005c0009 a0016c0016	a0005c0009t0009 a0016c0016t0015 a0016c0016t0035 a0005c0009t0009 a0016c0016t0015 a0016c0016t0035	a0005c0009t0009g0018 a0005c0009t0009g0019 a0016c0016t0015g0017 others(2): Show a0005c0009t0009g0018 a0005c0009t0009g0019 a0016c0016t0015g0017 a0016c0016t0015g0020 a0016c0016t0035g0021	5	316	0.0158	-612	c.474 others(17): Show c.474+2441_474+3052del	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding	2/8			chr22	TogoVar
RNF213_chr17_80255852_80403794	80314226	GTGAAGGT others(605): Show GTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGATGGT GGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGG TGATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTG GAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGT ACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGG TGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATG GTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGG AGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAG GTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAAT GGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGG TGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAG GTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG01346.hp2 HG01081.hp1 HG01346.hp1 HG01346.hp2	a0001 a0002 a0001 a0002	a0001c0075 a0002c0010 a0001c0075 a0002c0010	a0001c0075t0015 a0002c0010t0004 a0002c0010t0005 a0001c0075t0015 a0002c0010t0004 a0002c0010t0005	a0001c0075t0015g0099 a0002c0010t0004g0187 a0002c0010t0005g0186 a0001c0075t0015g0099 a0002c0010t0004g0187 a0002c0010t0005g0186	3	292	0.0103	-612	c.281 others(19): Show c.2811+1062_2811+1673del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC9A3_chr5_465456_529449	486939	GCACTGAC others(605): Show GCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCC ACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACA CCCACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACCCAC CACACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACC CACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGAC ACCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACACCGT GATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGACAC CCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGA CACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCAC TGACACCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACA CCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTG ACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCGCA CTGACACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(86): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18986.hp1 NA18990.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0009 others(9): Show a0001c0001 a0001c0008 a0001c0009 a0001c0020 a0001c0021 a0001c0024 a0001c0028 a0001c0031 a0002c0002 a0002c0010 a0002c0018 a0003c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0033 a0001c0008t0018 a0001c0009t0009 a0001c0020t0004 a0001c0021t0032 a0001c0024t0004 a0001c0028t0011 a0001c0031t0004 a0002c0002t0002 a0002c0002t0003 a0002c0010t0002 a0002c0018t0002 a0003c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 others(86): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0027 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0005g0166 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0190 a0001c0001t0005g0205 a0001c0001t0007g0065 a0001c0001t0011g0117 a0001c0001t0017g0003 a0001c0001t0022g0070 a0001c0001t0023g0074 a0001c0001t0027g0144 a0001c0001t0033g0188 a0001c0008t0018g0124 a0001c0009t0009g0081 a0001c0020t0004g0102 a0001c0021t0032g0204 a0001c0024t0004g0140 a0001c0028t0011g0085 a0001c0031t0004g0159 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0023 a0002c0002t0002g0077 a0002c0002t0003g0163 a0002c0010t0002g0093 a0002c0018t0002g0048 a0003c0014t0001g0160 a0003c0014t0001g0162	89	218	0.4083	-612	c.675 others(16): Show c.675+765_675+1376del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1094262	AAAGGCCT others(605): Show AAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCG GCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAG AGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTGTAGG TGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCCTGC AGGCAAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGG GCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATG GTAGAGTTACTGGCAAGGGCCGGCTTCCTGGACTGCAGGCGAAGGCCTTA TAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGA CTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGC AAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCA TATGGTAGAGTTACTGGCAAGGGCCAGCTTACTGGCCTGCAGGCAAAGGC CTTATAGGTGTGTCCTCATGTGGTAGAGTTACTGGCAAGGGCTGGCTTCC TGGGCTGCAGGCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0149 a0004c0004t0001g0149	1	190	0.0053	-612	c.211 others(17): Show c.211-3886_211-3275del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
BRSK2_chr11_1384934_1467689	1429881	GTCTGGTC others(604): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0290 a0001c0003t0004g0290	1	360	0.0028	-611	c.92- others(15): Show c.92-6158_92-5548del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430118	GTCTGGTC others(604): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp1 HG02074.hp1 others(7): Show HG00140.hp1 HG01255.hp1 HG02074.hp1 HG03017.hp2 HG03831.hp2 NA18944.hp1 NA18964.hp1 NA18971.hp2 NA18994.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0002c0002t0002 a0002c0002t0008 a0002c0002t0040 a0002c0002t0071	a0001c0001t0001g0099 a0001c0001t0009g0187 a0001c0001t0011g0310 others(7): Show a0001c0001t0001g0099 a0001c0001t0009g0187 a0001c0001t0011g0310 a0002c0002t0002g0103 a0002c0002t0002g0118 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0008g0167 a0002c0002t0040g0298 a0002c0002t0071g0249	10	360	0.0278	-611	c.92- others(15): Show c.92-5921_92-5311del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
DHRS12_chr13_51762993_51809163	51774870	CCTACAGT others(604): Show CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACA GTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCT CCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCT CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01361.hp1 others(20): Show HG01192.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01981.hp2 HG02145.hp1 HG02273.hp1 HG02451.hp1 HG02615.hp2 HG02895.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 NA18948.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA19009.hp1 NA19058.hp1 NA19064.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0003c0003 a0007c0006 others(1): Show a0001c0001 a0003c0003 a0007c0006 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0007c0006t0004 a0008c0005t0001	a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0096 others(15): Show a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0210 a0001c0001t0001g0302 a0001c0001t0002g0014 a0003c0003t0001g0041 a0003c0003t0001g0171 a0003c0003t0001g0222 a0007c0006t0004g0062 a0008c0005t0001g0200	23	420	0.0548	-611	c.364 others(16): Show c.364-1447_364-837del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775145	CCTACAGT others(604): Show CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACAGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACA GTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCT CCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCT CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02965.hp1 HG01123.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0215 a0001c0001t0001g0163 a0001c0001t0001g0215	2	420	0.0048	-611	c.363 others(17): Show c.363+1304_364-1112del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1013755	CGGTGCCT others(604): Show CGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGT GTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGA TGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCC TCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCA GGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGATGCCTCCACTGCGTGAGACCAGGACA GACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGT GTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACG ACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGT GTGACCAGGACA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-611	c.73+ others(19): Show c.73+105791_73+106401del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1016431	GTGTGTGA others(604): Show GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	-611	c.73+ others(19): Show c.73+108472_73+109082del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOC4L_chr12_132139457_132157468	132149661	ACTCCTAC others(604): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	294	0.0034	-611	c.901 others(15): Show c.901+770_902-706del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRAME_chr22_22542701_22564265	22563654	CGTGTTTT others(604): Show CGTGTTTTTTTAGGTGAAGACACTGACAGTAAGAAAAGGCAAACCACAGG TCCAAGACAAAGTGGTCAAGTCAAGAAGGAACTCAGGCTGTGTAGTCCTG GTGCAAGGCTCCTTGCCCCCAGCGTGGGGTCACACTGGCTGGCTGTGCTC CCACGACACTTAGTGCATACTGGGCTCCTGACTTAATAACACGTGTTTGA AATGGCCCCTGATTCCCAATCTGCTGCAGGATTCTGCAGATGCGCAACAG GCCACAGTGGAAGGTCTTGGAGAGAATTCAGAGTGGCTTGCCTACGTTCC CATGACCGTTTGTCTTAATGGGAGAATCACCATTTTGGAAAATTCTTTTG GAGGCCAGGCGCGGTGGCTCATGCCTGTAATTTCAGCACTTTGGGAGGCT GAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGGCAAC ATAGTGAAACCCCATCTCTACTAAAAATACAAAACTTAGCCTGGCATGGT GGTGCACACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGAGAATCG CTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCAAGATTGCACCACTGCA CTCCAGTCTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01261.hp1 HG02572.hp2 others(3): Show HG01167.hp1 HG01261.hp1 HG02572.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0012 a0001c0001t0001g0038	6	399	0.0150	-611	c.-54 others(11): Show c.-5408_-4798del	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding		4390		chr22	TogoVar
PXDN_chr2_1626887_1749515	1703593	GCAACTCC others(604): Show GCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGAGGGCAACTCC AGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGAAG CGGGGGACAGCTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGGGGGGG CAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAG GTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGG GGACAGCTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGCAACTC CAGGTGAAGGAGGGCAACTCCAGGTGAAGGTGGGGGACAACTCCAGGTGA AGGGAGGGCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGG GGCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACT CCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAA GGGAGGGCAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGGGGGCA ACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGAGGGCAACTCCAGGT GAAGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp2 others(63): Show HG00140.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18906.hp1 NA18906.hp2 NA19010.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0020 a0001c0024 a0001c0028 a0001c0034 a0001c0037 a0002c0009 a0003c0018 a0003c0042 a0009c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0018 a0001c0004t0004 a0001c0005t0004 a0001c0005t0007 a0001c0007t0006 a0001c0007t0029 a0001c0010t0008 a0001c0011t0004 a0001c0020t0003 a0001c0024t0004 a0001c0028t0001 a0001c0034t0003 a0001c0037t0006 a0002c0009t0011 a0002c0009t0026 a0003c0018t0034 a0003c0042t0005 a0009c0029t0001	a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0162 others(63): Show a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0162 a0001c0001t0001g0218 a0001c0001t0001g0281 a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0071 a0001c0001t0002g0234 a0001c0001t0003g0007 a0001c0001t0005g0212 a0001c0001t0010g0267 a0001c0001t0014g0152 a0001c0002t0002g0082 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0024 a0001c0002t0003g0054 a0001c0002t0003g0058 a0001c0003t0001g0022 a0001c0003t0001g0042 a0001c0003t0001g0086 a0001c0003t0002g0002 a0001c0003t0002g0006 a0001c0003t0002g0023 a0001c0003t0002g0038 a0001c0003t0002g0080 a0001c0003t0002g0235 a0001c0003t0002g0280 a0001c0003t0018g0303 a0001c0004t0004g0151 a0001c0004t0004g0153 a0001c0004t0004g0204 a0001c0004t0004g0207 a0001c0004t0004g0245 a0001c0005t0004g0247 a0001c0005t0007g0079 a0001c0005t0007g0154 a0001c0005t0007g0155 a0001c0005t0007g0205 a0001c0005t0007g0206 a0001c0007t0006g0233 a0001c0007t0006g0236 a0001c0007t0006g0264 a0001c0007t0006g0321 a0001c0007t0029g0156 a0001c0010t0008g0016 a0001c0010t0008g0244 a0001c0011t0004g0003 a0001c0011t0004g0041 a0001c0011t0004g0043 a0001c0020t0003g0015 a0001c0024t0004g0017 a0001c0028t0001g0150 a0001c0034t0003g0032 a0001c0037t0006g0285 a0002c0009t0011g0149 a0002c0009t0011g0220 a0002c0009t0026g0237 a0003c0018t0034g0246 a0003c0042t0005g0219 a0009c0029t0001g0019	66	322	0.2050	-611	c.201 others(19): Show c.201-11070_201-10460del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79920848	AGGAACCG others(604): Show AGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCA AGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGA GAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAAC CGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAG TGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	352	0.0028	-611	c.392 others(17): Show c.392-2059_392-1449del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920858	TGAGAGGT others(604): Show TGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGG GGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAA CCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	352	0.0028	-611	c.392 others(17): Show c.392-2069_392-1459del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
UNC13B_chr9_35157009_35410335	35373745	CCCCTGTG others(604): Show CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACAT GGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATA CATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAG ACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGT GGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAG ATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTC TCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGCCCTGTGCAAGAGT GTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGC ATATACATCGGG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp1 HG03688.hp2 HG03834.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0004 a0014c0014t0004	a0014c0014t0004g0018 a0014c0014t0004g0019 a0014c0014t0004g0018 a0014c0014t0004g0019	2	224	0.0089	-611	c.954 others(18): Show c.9541-1224_9541-614del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACAP3_chr1_1287391_1312930	1288221	CCGTGTCT others(603): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGT CTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	295	0.0034	-610	c.47 others(11): Show c.4733_*5342del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4169		chr1	TogoVar
AGRN_chr1_1015120_1061116	1028471	ATGGGCCA others(603): Show ATGGGCCAAGGGCGCCCACACCCACGCCACCCTTTCCGAAGGAACCGAGC CCCAGCCCCTCATGGGCCAAGGGCACCCACAGCCACGCCACCCTTTCCGA AGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACGCC ACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCC ACAGCCACGCCACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCGTGGGC CAAGGGCGCCCACACCCACGCCACCCTCTCCGAAGGAACCGAGCCCCAGC CCCTCGTGGGCCAAGGGCGCCCACACCCACGCCACCCTTTCCGAAGGAAC CGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACGCCACCCTT TCCGAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACACCC ACGCCACCCTTTCCGAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGG CGCCCACAGCCACGCCACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCG TGGGCCAAGGGCGCCCACACCCACGCCACCCTCTCCCAAGGAACCGAGCC CCAGCCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0171 a0001c0059t0001g0171	1	210	0.0048	-610	c.463 others(17): Show c.463+6029_464-6177del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD74_chr5_150396639_150417910	150417090	TTCACACC others(603): Show TTCACACCTGTAATCTCAGCACTTTGGGACGCCAAGGTGGAAGGACTGCT TGAGGCCAGAAGTTCAAGACCAGCCTGGGCAACAAAGCAAGACCCCCCCA TTTCTACAAAAACAAAACAAAACAAAACAAAATTTAATTAGCCAGGTGTG GCAGCACATATCTGTAGTCCCAGCTAGATGGGAGGCTGAGGCAGAAGGAT CACTTGAGCCCAGGAGTTTGAGGCTACAGTGAGCACTGATTGTCCCACTA AACTCCAGTCTGGGTGACAGAGCGAGCCCCTGTCTCAATAAATAATACAT TTTAAACATTAAAAATAAATAAATTTCTTTCTGAGGGGCCTGGAGGAGGT CATGCCCACAGGCCAGAGCTAACATTCCTTTTTTCTGACCCCAGATTTTT AGACAAACGTTCGTGTCCTTAACCAATGACAAATGAGAAAATCTTTAAAT CCACCCATGACCTGTGGACCCCCACTTCAAGATGTCCCACCTTTTTAGGT CAAACCAATATATAACCTTCATGTATTGATTTAGAATTTTGCCTATAACT TCTGCTTTCCTCAGATTTACCCCTGCCTTTAAAATCCTAGCTTATGGCTG GGGGCAGTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-610	c.-49 others(11): Show c.-4951_-4342del	CD74	ENSG00000019582.17	transcript	ENST00000009530.13	protein_coding		4181		chr5	TogoVar
DOCK8_chr9_209865_470255	380030	TGCAGGGG others(603): Show TGCAGGGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGG CTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGC ACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCT GCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGT GGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCG CTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGA TGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTA GGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACC CCAGCACTCTAGGAGGCTGAGATGGCAGGATCACTTGGAGCAGTGGCTCA CATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGA GCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAG GATCGCTTGGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0038 a0038	a0038c0068 a0038c0068	a0038c0068t0003 a0038c0068t0003	a0038c0068t0003g0077 a0038c0068t0003g0077	1	256	0.0039	-610	c.260 others(17): Show c.2605+100_2605+709del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
KNDC1_chr10_133155219_133231412	133222711	CGGCGTGT others(603): Show CGGCGTGTGTGTGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGT GTGCGTGTGCGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGT GTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGT GAGAGCCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCC ATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGC ATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTT CCCGGCGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGC GTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGT GTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGA GCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCC AGGCATGCTCTTCCCGGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGC TCTTCTCGGCATGTGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGC TGTTCCCGGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(39): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02055.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG03209.hp2 HG03239.hp1 HG03654.hp1 HG04204.hp2 NA18943.hp1 NA19005.hp1 NA19030.hp2	a0001 a0002 a0015 others(2): Show a0001 a0002 a0015 a0018 a0023	a0001c0003 a0001c0004 a0001c0035 others(8): Show a0001c0003 a0001c0004 a0001c0035 a0001c0036 a0001c0070 a0002c0002 a0002c0005 a0002c0022 a0015c0026 a0018c0050 a0023c0064	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(10): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0035t0005 a0001c0036t0003 a0001c0070t0001 a0002c0002t0001 a0002c0005t0001 a0002c0022t0003 a0015c0026t0001 a0018c0050t0001 a0023c0064t0001	a0001c0003t0001g0223 a0001c0003t0001g0276 a0001c0003t0003g0009 others(36): Show a0001c0003t0001g0223 a0001c0003t0001g0276 a0001c0003t0003g0009 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0124 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0296 a0001c0003t0003g0300 a0001c0003t0003g0301 a0001c0003t0003g0304 a0001c0003t0005g0307 a0001c0004t0001g0033 a0001c0004t0001g0039 a0001c0004t0001g0097 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0136 a0001c0004t0001g0139 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0222 a0001c0004t0001g0317 a0001c0035t0005g0263 a0001c0036t0003g0275 a0001c0070t0001g0038 a0002c0002t0001g0088 a0002c0005t0001g0032 a0002c0005t0001g0119 a0002c0022t0003g0291 a0015c0026t0001g0122 a0015c0026t0001g0123 a0018c0050t0001g0113 a0023c0064t0001g0155	42	332	0.1265	-610	c.501 others(19): Show c.5019-1947_5019-1338del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29			chr10	TogoVar
MEI4_chr6_77648039_77932045	77765209	TAATAAAT others(603): Show TAATAAATGTTTCTTTTTGTTACTTTTCTCTTGAGGAAGTGATTATATCT TATTTTCTCCACTATGCCCAAGACAATGTTGAGTTTGTTGTAGCAGCAAC GTGAGATATTTTTTTGAATTGAAAATAAGATAATGAGAAGAAGTGACAAC TTATATTTCATATACCCTCATAAACTTAAATACCATCAGCTGATTTTATT TTTTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGC ACAACGTGCAGGTTTGTTACATATGTATACATGTGCTGTGTTGGTGTGCT GCACCCATTAACTGGTCATTTAGCATTAGGTATATCTCCTAATGCTATCC CTCTCCCCTCCCCCCACCCCACAACAGTCCCTGGTGTGAACTAGTTCAAC CATTGTGGAAGACAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAATT CCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCAGCACTAT GCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGAC TGGATTAAGAA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02970.hp1 HG03041.hp2 others(4): Show HG02293.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0037 others(4): Show a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0040 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054	7	360	0.0194	-610	c.768 others(17): Show c.768+3548_768+4157del	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3299666	GTGATGTT others(603): Show GTGATGTTTCCGATCCCAGTCGTGGTGACTCTGCCCTTGTTGAAGATGCT ATGCTGTGGCCATGATGTTTCCGATCCCAGTCGTGGTGACTCTGCCCTGG TTGAAGATGCTATGCTGTGGCTGTGATGTTTCAGATCCCAGTCGTGGTGA CTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCGTGATGTTTCCAATCCC AGTCGTGGTGACTCTGCCCTGGTTGAAGATGCCGTGCTGTGGCTGTGATG TTTCAGATCCCAGTCATGGTGACTCTGCCCTTGTTGAAGATGCTATGCTG TGGCCGTGATGTTTCAGATCCCAGTCATGGTGGCTCTGCCCTTGTTGAAG ATGCTATGCTGTGGCCGTGATGTTTCCGATCCCAGTCATGGTGACTCTGC CCTTGTTGAAGATGCTATGCTGTGGCTGTGATGTTTCAGATCCCAGTCGT GGTGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCGTGATGTTTCAG ATCCCAGTCGTGGTGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCAG TGATGTTTCCGATCCCAGTCGTGGTGGCTCTGCCCTTGTTGAAGATGCTA TGCTGTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(92): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02970.hp1 HG02976.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18966.hp1 NA18970.hp2 NA18983.hp1 NA18990.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0020 a0001c0021 a0001c0026 a0001c0029 a0001c0031 a0002c0003 a0002c0015 a0003c0005 a0003c0011 a0004c0010 a0006c0023 a0007c0024 a0008c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0070 a0001c0001t0076 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0027 a0001c0002t0032 a0001c0002t0052 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0079 a0001c0004t0007 a0001c0004t0055 a0001c0004t0063 a0001c0004t0081 a0001c0008t0001 a0001c0008t0002 a0001c0009t0067 a0001c0012t0009 a0001c0014t0030 a0001c0014t0068 a0001c0020t0005 a0001c0021t0049 a0001c0026t0001 a0001c0029t0065 a0001c0031t0037 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0029 a0002c0003t0075 a0002c0015t0014 a0003c0005t0006 a0003c0005t0009 a0003c0011t0001 a0004c0010t0026 a0006c0023t0025 a0007c0024t0007 a0008c0027t0078	a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0001t0001g0119 others(92): Show a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0012 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0001t0003g0168 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0008g0064 a0001c0001t0008g0097 a0001c0001t0011g0047 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0018g0164 a0001c0001t0020g0105 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0022g0061 a0001c0001t0030g0162 a0001c0001t0031g0167 a0001c0001t0035g0194 a0001c0001t0070g0100 a0001c0001t0076g0170 a0001c0002t0001g0058 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0153 a0001c0002t0001g0208 a0001c0002t0002g0146 a0001c0002t0002g0169 a0001c0002t0002g0180 a0001c0002t0003g0052 a0001c0002t0003g0074 a0001c0002t0003g0147 a0001c0002t0005g0081 a0001c0002t0005g0141 a0001c0002t0005g0152 a0001c0002t0005g0186 a0001c0002t0008g0094 a0001c0002t0008g0098 a0001c0002t0015g0118 a0001c0002t0015g0163 a0001c0002t0016g0015 a0001c0002t0017g0177 a0001c0002t0017g0202 a0001c0002t0027g0148 a0001c0002t0027g0166 a0001c0002t0032g0192 a0001c0002t0052g0199 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0002t0064g0182 a0001c0002t0079g0188 a0001c0004t0007g0038 a0001c0004t0055g0004 a0001c0004t0063g0016 a0001c0004t0081g0031 a0001c0008t0001g0005 a0001c0008t0002g0059 a0001c0009t0067g0145 a0001c0012t0009g0113 a0001c0012t0009g0193 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0020t0005g0196 a0001c0021t0049g0023 a0001c0026t0001g0160 a0001c0029t0065g0131 a0001c0031t0037g0156 a0002c0003t0001g0142 a0002c0003t0004g0128 a0002c0003t0006g0050 a0002c0003t0006g0066 a0002c0003t0009g0078 a0002c0003t0029g0106 a0002c0003t0075g0084 a0002c0015t0014g0073 a0003c0005t0006g0053 a0003c0005t0009g0010 a0003c0005t0009g0136 a0003c0011t0001g0185 a0004c0010t0026g0207 a0006c0023t0025g0007 a0007c0024t0007g0173 a0008c0027t0078g0082	95	210	0.4524	-610	c.438 others(19): Show c.438+55739_438+56348del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXMP2_chr12_132682587_132709985	132683911	GGTTACTA others(603): Show GGTTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAG AGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACAC AGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCACTGACTGG TTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAG AGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAG GCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTC CCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTAC TATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCT ACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTC TCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTA CTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATC ACACCGTCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0103 a0001c0010t0001g0103	1	350	0.0029	-610	c.-37 others(11): Show c.-3759_-3150del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		3675		chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1288221	CCGTGTCT others(603): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGT CTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0269 a0012c0022t0006g0269	1	290	0.0035	-610	c.166 others(17): Show c.1662+186_1662+795del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS53_chr17_503668_719839	582167	CCCAGAGA others(603): Show CCCAGAGAACCTCCCTCAGAACCTAATGCATCCCAGAGAACATCACTCAG AACCTAATGTGTTCCCAGAGAACCTCCCTCAGAACCTCAGTGCATTCTGA GAACCTCCCTCAAAACCTCAGTGTGTTCCCAGAGAACCTCCCTGAGGACC TAATGCATTCCCAGAGAACCTCCCTCAGAACCCAATGTGTCCCCAGAGAA CCTCCCTCACAACCCAGTGCGTTCCCAGAGAACCTCCCTCAGGACCTCAA TGCGTTCCCACAGAACTTCCCTCATCATCTAATGCATTCCCAAAGAACCT CCCTCAGAACCTAGTGCATTCCCAGAGAACATCACTCAGGACCCAATGTG TTCCCAGAGAACCTCCACAGAAGCTCAATGCGTTCCCAGAGAACCTCCTT CAGACGCTAATGTGTTCCCAGGGAACTTCCCTCAGAACCTCAACGCAGTC CCAGAGAAACTCCCTCAGACCCTAACGTGTTCCCAGAGAACCTCCCTTAG AACCCAATGCGTTCCCAGAGAACCTCCCTCAGAACCTAATGCGTTCCGAG ATAACCTCCCTCAGAATCTCAATGCGTTCCCAGAGAACTTCTCTTAGAAC CTAATGCGTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(35): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 HG03491.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18946.hp1 NA18955.hp1 NA18957.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA19000.hp1 NA19010.hp1 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0008 a0005c0009 a0002c0003 a0004c0008 a0005c0009	a0002c0003t0008 a0002c0003t0009 a0002c0003t0017 others(25): Show a0002c0003t0008 a0002c0003t0009 a0002c0003t0017 a0002c0003t0018 a0002c0003t0027 a0002c0003t0036 a0002c0003t0037 a0002c0003t0085 a0002c0003t0089 a0002c0003t0090 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0099 a0002c0003t0104 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0002c0003t0150 a0004c0008t0036 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147	a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 others(35): Show a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0017g0179 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0018g0231 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0036g0176 a0002c0003t0037g0115 a0002c0003t0037g0168 a0002c0003t0085g0184 a0002c0003t0089g0175 a0002c0003t0090g0171 a0002c0003t0091g0209 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0099g0192 a0002c0003t0104g0208 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0002c0003t0150g0191 a0004c0008t0036g0207 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177	38	232	0.1638	-610	c.131 others(19): Show c.1313+3493_1313+4102del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21			chr17	TogoVar
AGFG1_chr2_227467156_227566217	227518413	GAATTCCG others(602): Show GAATTCCGGTTGTTCCACATTGTTACCAACACATGATGCAGTCACACTTT GTTTTCGGCTTTTCTAGTAGTATATGCATGTCTGTCTTGTGGAGTCTCAG TGTCTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGAGTTTTGCTCTTGTC GCCCAGGCTGGAGTGCAATGACATGATCTTGGCTCACTGCAACCTCCCCT TCCTGGGTTCAAGCCATTCTTCTGACTCAGCCTCCTGAGTAGCTGGGATT ACAGGCATGCACCACTACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAG ATGGGGTTTCACCATTTTGGCCAGTCTAGTCCCGAACTCCTGACCTCAGG TGATCCGCCTGCACCCGGCCTCAGTGTCATTTTAATTTGCATTTTATGCA TGACTAATGATAGTGGGCTGCTGATATCTTTGGTGAAGTGTTTGTTCAGA CCTTTTGCCCCCGCTTTAAACAAGTGTTGGCTGGGCATGGTGGCTCGCGC CTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGCTC ATGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACACCATCTCTACAAA AAATACAAAA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	328	0.0031	-609	c.262 others(16): Show c.262-1530_262-922del	AGFG1	ENSG00000173744.18	transcript	ENST00000310078.13	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CLPTM1L_chr5_1312752_1350099	1326679	CCATCCAG others(602): Show CCATCCAGCTCCTCCTCTACGGGGACATTCCATCCAGCTCCTCCTCTACG GGGACATTTCATCCAGCTCCTCCTCTACAGGGACAATCCATCCAGCTCCT CCTCTACAGGGACATTTCATCCAGCTCCTCCCCTACAGGGACATTTCATC CAGCTCCTCCTCGACAGACACATTTCATCCAGCTCCTCCTCGACAGACAC ATTTCATCCAGCTCCTCCTCTACGGACACATTTCATCCAGCTCCTCCTCT ACGGACACATTTCATCCAGCTCCTCCTCTACGGACACATTCCATCCAGCT CCTCCTCCACAGGGACATTTCATCCAGCTCCTCCTCTACAGGGACATTCC ACCCAGCTCCTCCTCTACAGGGACATTCCACCCAGCTCCTCCTCGACAGG GACATTCCACCCAGCTCCTCCTCGACAGACACATTCCATCCAGCTCCTCC TCTACAGACACATTTCATCCAGCTCCTCCTCTACAGGCACATTCCATCCA GCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACACAT TTCATCCAGCTCCTCCTCGACAGACACATTCCATCCAGCTCCTCCTCTAC AGGGACATTT	C C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19079.hp1 NA19085.hp2 NA19067.hp1 NA19079.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0082 a0001c0001t0001g0136 a0001c0001t0001g0137	3	370	0.0081	-609	c.108 others(18): Show c.1081-1472_1081-864del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
DHRSX_chrX_2214506_2505976	2280646	AGGGAGAG others(602): Show AGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGG AGAGGGAACG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	50	0.0200	-609	c.388 others(19): Show c.388+10247_388+10855del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
KIF13B_chr8_29062278_29268070	29066090	CATTTCAG others(602): Show CATTTCAGGGTCTGGGCAACGCTGAAAAAACCACACAGCCTTGGGCAAGC AAAAGACATCTCATTGAGTTGCAAGATAGTAGTAGCTTGAAAAATAAGAT CCACTCGAGGTGCTATATCAATACTATGTTCAGAGTCCTGCCTCATTCAG AGCAGGGCATCTCCTGCTGCCAAATTCCTGTCATTATTCGGCAGCGCTTG TCTCCAAGCATTCTTCTGCACTGAGGAATGTAAACCAGCCCTGCCCGGCT GTGCTGGCTGATGGACAGCTCTGGTCAGCCCTCAGAGTGGCTGAGCCCTC CACTTGCAAGTGTATTTCATATCCAAGGGCCAACTGATTCGCTGGCATAG CAAGAAAAGCTTTACATGGGGCCACAAGCACCTCTGCGTCCTTGTGGGAA TGTGCACTGGCTGCCGGCATCCCTCACTGGTACTGGACTGGGGCCTTGTG GCTGAGTGGGAATCTACTGGCGAATGGAAGGAAGCCAAGTCATCTTCCCG GGCTCGAAGGCTGGACCCAGCATCCTCGGTACCATTCTAGGCCCACGCTG GGCACAGCTGGGCGGGGTGGCTGCAGAATGCAGGCCTCATCAGAGAGCAG GGCCAGGCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0116 a0001c0001t0023g0116	1	288	0.0035	-609	c.38 others(11): Show c.3805_*4413del	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding		1187		chr8	TogoVar
MPPED1_chr22_43407014_43512848	43496167	TGGTGATG others(602): Show TGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTG GTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGT GGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGG AGATGGTGGTGATGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTG GTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGG TGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATG GTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGT GGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGG TGGAGATGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA GTGGTGGTGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGG TGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0063 a0001c0001t0002g0024 a0001c0001t0002g0063	2	250	0.0080	-609	c.633 others(17): Show c.633-2063_633-1455del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYOM2_chr8_2040046_2150456	2085467	CGCTGTCG others(602): Show CGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTGGC CCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTG GCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTG GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCC ACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT GTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0068 a0002c0068	a0002c0068t0001 a0002c0068t0001	a0002c0068t0001g0124 a0002c0068t0001g0124	1	403	0.0025	-609	c.164 others(16): Show c.1644+78_1644+686del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar

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Search Results (Total: 10000 hits)