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
CCDC6_chr10_59783747_59911556	59882162	CGGCGGGA others(237): Show CGGCGGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGC CGCGGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCC GGGGGGATGAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02109.hp2 others(5): Show HG01243.hp2 HG01884.hp1 HG02109.hp2 HG02647.hp1 HG02965.hp1 HG03453.hp1 NA18522.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0006 a0001c0005t0004 a0002c0004t0001 a0001c0001t0006 a0001c0005t0004 a0002c0004t0001	a0001c0001t0006g0194 a0001c0005t0004g0196 a0001c0005t0004g0197 others(5): Show a0001c0001t0006g0194 a0001c0005t0004g0196 a0001c0005t0004g0197 a0001c0005t0004g0198 a0001c0005t0004g0199 a0001c0005t0004g0200 a0001c0005t0004g0201 a0002c0004t0001g0045	8	288	0.0278	-244	c.303 others(19): Show c.303+23716_303+23959del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC7_chr10_32441140_32887864	32508758	GTAGCTGG others(237): Show GTAGCTGGGATTACAAGCGCCCGCCACCATGCCTGGCTAATTTTTTTGTA TTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTTTTGAACT GCTGACCTCAAGTGATCTTCCCGCCTTGGCCTCCCAAAGTGCTAGGATTA CAGGCATGAGCCACTGTGCCTGGCATTTTTTTTTTTTTTTTTTTTGAAAT GGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGCCATGATCT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	368	0.0027	-244	c.873 others(17): Show c.873-9185_873-8942del	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNN2_chr19_1021608_1044065	1033724	CACGGTGT others(237): Show CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA20129.hp2 HG01943.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0023 a0001c0002t0013g0023	2	390	0.0051	-244	c.390 others(17): Show c.390+1047_390+1290del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
COQ8A_chr1_226935294_226992544	226978502	CACACACC others(237): Show CACACACCCACCGAACACCCACTGAACACTGCACCTCCTTACCCTCCACA CACCCCCCACAGCCACACACCACCTTACACACTCTCCACACACTCTACCC TCTACACACCCGCCCACCTTACACTCCACACACCCGCCCACCTCCTTACC CTCCACACACCTGCCCACCTCCTTACACACCCTCCACACACCTGCACACC TCCTTACATCTTCCACACACCCACCTCATACCTGCACACCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00639.hp2 others(19): Show HG00140.hp1 HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01993.hp1 HG02109.hp1 HG02559.hp1 HG03239.hp2 HG03654.hp2 HG03942.hp1 HG04204.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0035 a0001c0003t0003g0056 others(19): Show a0001c0003t0003g0030 a0001c0003t0003g0035 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0077 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0320 a0001c0003t0003g0323	22	412	0.0534	-244	c.730 others(16): Show c.730+991_730+1234del	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89579781	CGTCACCC others(237): Show CGTCACCCGCTGACACGGAACATCTCACCCGTCACACGGAACATCCCACA CCCATCACACGGAACATCTCACCCATCACACGGAACATCCCGTCACCTGC TGACACGGAACATCTCACCCATCACACGGAACATCCCGTCACCCGCTGAC ACAGAACATCTCACCCGTCACATGGAACATCCCGTCACCCGTCACACGGA ACATCCCATCACACGGAACATCTCACCCATCACACGGAACATCCT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	348	0.0029	-244	c.357 others(17): Show c.357+2108_357+2351del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRLF2_chrX_1185490_1217649	1211477	ATGGATGG others(237): Show ATGGATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGAT AGATGGATGTATTGGTGGATGGATGGGTGGATGGATGGATGGATGGATAA GTGGATAAAAGTGTGGGTGAATGCATGGATAGATGGATGTATTGGTGGAT GGATGGGTGGATGGATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGA ATGCATGGATGGATGGATGTATTGGTGGATGGATGGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0106 a0001c0002t0005g0106	1	167	0.0060	-244	c.79+ others(14): Show c.79+835_79+1078del	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1268237	GTGTGTGC others(237): Show GTGTGTGCAGGACTGTGCCAGTGTGCTTGTTTGTGCAGATGTGTGTGCAG ATATGTGTGTAGCTGTGTGTATGCCCATGTGCACTGTGTGCAGGTGTGTG GGGATGTGTGTGTGCAGGTCTGTGTGTGCAGTTGTGTGTGCAGACATGCA TATGTGTGCAGGTGTGTGTGCAGATGTGTGTGTAGCTGTGTGTACGCCCG TGCGCACTGTGTGCAGGTGTGTGGAGATGTGTGTGTGTGCAGGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	159	0.0063	-244	c.-73 others(9): Show c.-732_-489del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		576		chrX	TogoVar
DBNDD1_chr16_89999871_90024456	90008138	GCACACCT others(237): Show GCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACCCACACCTC CCAGGATGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTC CCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGC CTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCAC CACGCACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19086.hp1 NA18989.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0059 a0001c0002t0011g0060 a0001c0002t0011g0059 a0001c0002t0011g0060	2	412	0.0049	-244	c.319 others(15): Show c.319+402_319+645del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008350	CCAGGACT others(237): Show CCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGT CCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGATGTCCCAAGGGG CCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCA CCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACAC CTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACGCACACCTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0014 a0001c0001t0018	a0001c0001t0014g0129 a0001c0001t0018g0294 a0001c0001t0014g0129 a0001c0001t0018g0294	2	412	0.0049	-244	c.319 others(15): Show c.319+190_319+433del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DMD_chrX_31114222_33216549	33009567	TGTGTATA others(237): Show TGTGTATATACACATATGTGTGTATGTGTGTATGTGTATATACACATATG TGTGTATGTGTGTATGTGTATATACACATATGTGTGTATACGTGTATATG TGTATACGTATATGTGTATATGCACATATGTGTGTATACGTATATGTGTA TATGTGTGTATATGTGTATATACACACATATGTGTATATGTGTGTATATG TGTATATACACACATATGTGTATATGTGTGTATATGTGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01069.hp1 others(32): Show HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03942.hp1 HG04228.hp1 NA18940.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19066.hp1 NA19085.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0020 a0023 a0031 a0033	a0001c0001 a0001c0002 a0002c0005 others(17): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0002c0016 a0003c0003 a0003c0014 a0003c0062 a0004c0004 a0004c0011 a0005c0007 a0006c0006 a0007c0019 a0008c0010 a0012c0040 a0013c0015 a0020c0034 a0023c0041 a0031c0047 a0033c0050	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0009t0010 a0002c0016t0001 a0003c0003t0001 a0003c0003t0002 a0003c0014t0001 a0003c0062t0001 a0004c0004t0001 a0004c0011t0001 a0004c0011t0002 a0005c0007t0007 a0006c0006t0001 a0007c0019t0001 a0008c0010t0001 a0012c0040t0001 a0013c0015t0001 a0020c0034t0001 a0023c0041t0001 a0031c0047t0005 a0033c0050t0001	a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0069 others(32): Show a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0008g0021 a0001c0001t0013g0012 a0001c0002t0001g0051 a0001c0002t0001g0074 a0001c0002t0001g0115 a0002c0005t0001g0022 a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0002g0020 a0002c0009t0010g0023 a0002c0016t0001g0060 a0003c0003t0001g0033 a0003c0003t0001g0067 a0003c0003t0002g0043 a0003c0014t0001g0059 a0003c0062t0001g0078 a0004c0004t0001g0041 a0004c0011t0001g0085 a0004c0011t0002g0035 a0005c0007t0007g0063 a0006c0006t0001g0047 a0007c0019t0001g0052 a0007c0019t0001g0061 a0008c0010t0001g0042 a0012c0040t0001g0048 a0013c0015t0001g0102 a0020c0034t0001g0013 a0023c0041t0001g0046 a0031c0047t0005g0081 a0033c0050t0001g0119	35	126	0.2778	-244	c.93+ others(17): Show c.93+10328_93+10571del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DOCK8_chr9_209865_470255	320554	TCAGAGAT others(237): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0110 a0002c0110	a0002c0110t0002 a0002c0110t0002	a0002c0110t0002g0040 a0002c0110t0002g0040	1	256	0.0039	-244	c.827 others(17): Show c.827+3792_827+4035del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	322018	TCAGAGAT others(237): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0048 a0048	a0048c0151 a0048c0151	a0048c0151t0003 a0048c0151t0003	a0048c0151t0003g0174 a0048c0151t0003g0174	1	256	0.0039	-244	c.828 others(17): Show c.828-3531_828-3288del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380268	GCTTGGAG others(237): Show GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTC ACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp1 HG01891.hp2 others(17): Show HG01069.hp1 HG01175.hp1 HG01891.hp2 HG01952.hp2 HG02145.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0019 a0027 a0040	a0001c0011 a0001c0056 a0001c0067 others(15): Show a0001c0011 a0001c0056 a0001c0067 a0002c0076 a0002c0077 a0002c0095 a0002c0098 a0004c0040 a0005c0144 a0005c0145 a0008c0117 a0008c0118 a0010c0092 a0011c0154 a0012c0163 a0019c0047 a0027c0101 a0040c0048	a0001c0011t0001 a0001c0056t0005 a0001c0067t0001 others(15): Show a0001c0011t0001 a0001c0056t0005 a0001c0067t0001 a0002c0076t0001 a0002c0077t0003 a0002c0095t0001 a0002c0098t0001 a0004c0040t0001 a0005c0144t0004 a0005c0145t0001 a0008c0117t0001 a0008c0118t0001 a0010c0092t0011 a0011c0154t0001 a0012c0163t0001 a0019c0047t0001 a0027c0101t0007 a0040c0048t0008	a0001c0011t0001g0023 a0001c0011t0001g0024 a0001c0011t0001g0025 others(17): Show a0001c0011t0001g0023 a0001c0011t0001g0024 a0001c0011t0001g0025 a0001c0056t0005g0086 a0001c0067t0001g0006 a0002c0076t0001g0087 a0002c0077t0003g0018 a0002c0095t0001g0002 a0002c0098t0001g0027 a0004c0040t0001g0216 a0005c0144t0004g0028 a0005c0145t0001g0172 a0008c0117t0001g0016 a0008c0118t0001g0036 a0010c0092t0011g0126 a0011c0154t0001g0067 a0012c0163t0001g0170 a0019c0047t0001g0022 a0027c0101t0007g0055 a0040c0048t0008g0012	20	256	0.0781	-244	c.260 others(17): Show c.2605+577_2605+820del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DUSP8_chr11_1549051_1577271	1550811	TATCCATC others(237): Show TATCCATCCATCCACCCACCCACCCCACTCATCCCTCTACCCATTCATCC ATCTGCCCATCCATCCATCCATCCATCCACCCACCCCACTCATCCCTCTA CCCATTCATCCATCTGCCCATCCATCCATCCACCCACCCACCCCACTCAT CCCTCTACCCATTCATCCATTTGCTCATCCATCCATCCATCCACCCACCC ATCCACCCCACTCATCCCTCTACCCATTCATCCATCTGCCCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02451.hp1 others(9): Show HG01243.hp1 HG01884.hp2 HG02451.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0022 a0001c0002 a0012c0022	a0001c0002t0003 a0012c0022t0003 a0001c0002t0003 a0012c0022t0003	a0001c0002t0003g0013 a0001c0002t0003g0043 a0001c0002t0003g0124 others(4): Show a0001c0002t0003g0013 a0001c0002t0003g0043 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0147 a0001c0002t0003g0158 a0012c0022t0003g0126	12	367	0.0327	-244	c.54 others(11): Show c.5463_*5706del	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		3239		chr11	TogoVar
ERICH1_chr8_659200_736224	675870	GTGAGGAC others(237): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	378	0.0027	-244	c.305 others(17): Show c.305-2067_305-1824del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696370	CGCTCGCT others(237): Show CGCTCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCT CCCCATCAGCCTGCACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTC CCCATCAGCCTGCGCTCGCTCCTCTCACCCTCTCTCCCTCTCCTTCCTCC CCATCAGCCTGTGCGCGCTCCTCACACCCTCCCTCTCCTTCCTCCCCATC AGCCTGTACTCGCTCCTCTTACCCTCCACTCCTTCCTCCCCATCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG04184.hp1 others(2): Show HG00642.hp2 HG01361.hp2 HG04184.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0339 others(2): Show a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0347 a0001c0002t0005g0243	5	378	0.0132	-244	c.170 others(17): Show c.170-4002_170-3759del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FMN1_chr15_32760544_33199714	32777817	TTTATATA others(237): Show TTTATATATTATGTATAATATATAATACATTAATTATATATTATGTATAA TATATAATACATTATATATTATGTATAATATATAATACATTATATATTAT GTATAATATATAATACATTATATATTATGTATAATATATAATACATTTAT TATATATTATGTATAATATATAATACATTTATTATATATTATGTATAATA TATAATACATTTATTATATATTATGTATAATATATAATACATTTA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA20905.hp1 HG03704.hp2 NA20905.hp1	a0001 a0043 a0001 a0043	a0001c0002 a0043c0058 a0001c0002 a0043c0058	a0001c0002t0048 a0043c0058t0032 a0001c0002t0048 a0043c0058t0032	a0001c0002t0048g0049 a0043c0058t0032g0005 a0001c0002t0048g0049 a0043c0058t0032g0005	2	196	0.0102	-244	c.413 others(18): Show c.4131-1142_4131-899del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
HDAC4_chr2_239043168_239406020	239069056	TGAGAGGG others(237): Show TGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGT GAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTG AGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGA GAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAG AGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0007 a0001c0003t0034g0007	1	242	0.0041	-244	c.275 others(17): Show c.2751-693_2751-450del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
IL3RA_chrX_1331785_1387689	1337750	ATACCCAT others(237): Show ATACCCATCTATAGACGAATGGATAAATATAATGTGGTCCAGCCACACAG TGGAATATTACACAGCCATGAAAAGGAACAAGCAGCTTTATTCACAATAG CCAAGAGGTGGAGACAGCCCTCATACCCATCTATAGATGAATGGAGAAAT ATAATGTGGTCCAGCCACACAGTGGAATATTATACAGCCATGAAAAGGAA CAAGCAGCTTTATTCACAATAGCCAAGAGGTGGAGACAGCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02922.hp1 HG03453.hp2 HG01123.hp2 HG02922.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0005 a0001c0001t0003 a0002c0002t0005	a0001c0001t0003g0113 a0001c0001t0003g0114 a0002c0002t0005g0115 a0001c0001t0003g0113 a0001c0001t0003g0114 a0002c0002t0005g0115	3	115	0.0261	-244	c.-39 others(16): Show c.-39+839_-39+1082del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KCNIP4_chr4_20723606_21953772	21714845	TTTTATTT others(237): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02647.hp2 others(3): Show HG02109.hp1 HG02622.hp2 HG02647.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0002g0015 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0003g0002 a0001c0002t0004g0071	6	80	0.0750	-244	c.61+ others(19): Show c.61+233482_61+233725del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
MYT1_chr20_64159452_64247253	64173786	CCTGCAGC others(237): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19043.hp1 HG01361.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0015 a0001c0001t0003 a0001c0006t0015	a0001c0001t0003g0072 a0001c0006t0015g0024 a0001c0001t0003g0072 a0001c0006t0015g0024	2	223	0.0090	-244	c.-99 others(17): Show c.-99+9050_-99+9293del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687892	ATATGTGT others(237): Show ATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACA TATATAATATGTGTGTACAATATACACATATATAATGTGTGTACAATATA CACATATATAAATGTGTGTACAATATACACATATATAAATGTGTGTACAA TATACACATATATAATATGTGTGTACAATATACACATATATATGTGTGTA CAATATACACATATATATGTGTGTACAATATACACATATATATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03704.hp1 HG01099.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0299 a0001c0001t0001g0268 a0001c0001t0001g0299	2	352	0.0057	-244	c.33 others(11): Show c.3395_*3638del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2529		chr15	TogoVar
NLRP6_chr11_273407_290388	287433	CTCCAGAA others(237): Show CTCCAGAAGCAGCAAGGAAGCCAGGTAGCCGCAGCGGAGTAGGGGATGGG GAGGAGATGAGGTCAGGGAACCCAGGCAGGTGCAGGAGGGGGTTTGCGGG TGGAGCTTGCGTGCTTGGAAAGTTCCAGAAGCAGCAAGGAAGCCAGGTAG CCGCAGCGGAGTAGGGGAGGGGGAGGAGATGAGGTCAGGGAACCCAGGAA GGTGCAGGAGGGGGTTTGCGGGTGGAGCTTGCGTGCTTGGAAAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0110 a0001c0006t0001g0110	1	446	0.0022	-244	c.21 others(11): Show c.2130_*2373del	NLRP6	ENSG00000174885.13	transcript	ENST00000534750.6	protein_coding		2046		chr11	TogoVar
ODF3_chr11_191761_205258	196120	GGGGACCT others(237): Show GGGGACCTGGTGAGGGGACATAGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGAGGGGGACCTTG GTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(131): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0004 a0008c0008 a0001c0002 a0003c0004 a0008c0008	a0001c0002t0001 a0001c0002t0006 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0006 a0003c0004t0001 a0008c0008t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(7): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0006g0021 a0003c0004t0001g0003 a0008c0008t0001g0002	134	388	0.3454	-244	c.-93 others(9): Show c.-934_-691del	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		640		chr11	TogoVar
PAQR5_chr15_69293912_69412780	69300652	TTCTTTCT others(237): Show TTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCATT CTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTT CCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTAGTTCGTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19063.hp1 NA18968.hp2 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0281 a0001c0003t0003g0282	2	284	0.0070	-244	c.-27 others(19): Show c.-277+1597_-277+1840del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PFKP_chr10_3062548_3141802	3085504	CTCCACTC others(237): Show CTCCACTCTCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCAC TCCCTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCC CTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCT TCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACTCCACT CTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0334 a0001c0005t0002g0334	1	402	0.0025	-244	c.186 others(17): Show c.186+3044_186+3287del	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PGGHG_chr11_284126_301107	287433	CTCCAGAA others(237): Show CTCCAGAAGCAGCAAGGAAGCCAGGTAGCCGCAGCGGAGTAGGGGATGGG GAGGAGATGAGGTCAGGGAACCCAGGCAGGTGCAGGAGGGGGTTTGCGGG TGGAGCTTGCGTGCTTGGAAAGTTCCAGAAGCAGCAAGGAAGCCAGGTAG CCGCAGCGGAGTAGGGGAGGGGGAGGAGATGAGGTCAGGGAACCCAGGAA GGTGCAGGAGGGGGTTTGCGGGTGGAGCTTGCGTGCTTGGAAAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0021 a0001c0005t0036g0021	1	450	0.0022	-244	c.-18 others(11): Show c.-1819_-1576del	PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding		1692		chr11	TogoVar
PLEK2_chr14_67381984_67417165	67399402	GTCTCAGG others(237): Show GTCTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTGTCAGGT GGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTGTCAGGTGGCAGGAAT AGAGAAGGGTCGTTTAGGTGGTTCTCAGGTGGCAGAAATAAAGAGAAGGG TAGTTTAGGTGGCTGTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGG TGGTTCTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGT	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	354	0.0028	-244	c.43- others(15): Show c.43-1820_43-1577del	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
RNF4_chr4_2464106_2520857	2511216	TAAGGTCC others(237): Show TAAGGTCCCCAGGTCTTGCAGTCAGCACATGGTGTGGCTGTGGCAGCCCC CAGATAGTAAGGAAGGTCCCCAGGTCTTGCAGTCAGCACATGGTGTGGCT GTGGCAGCCCCCAGATAGTAAGGAAGGTCCCCAGGTCTTGCAGTCAGCAC ATGGTGTGGCTGTGGCAGCCCCCAGATAGTAAGGAAGGTCCCCAGGTCTT GCAGTCAGCACATGGTGTGGCTGTGGCAGCCCCCAGATAGTAAGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02647.hp1 HG01243.hp2 HG01884.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0014 a0001c0001t0001 a0001c0003t0014	a0001c0001t0001g0262 a0001c0003t0014g0357 a0001c0003t0014g0370 a0001c0001t0001g0262 a0001c0003t0014g0357 a0001c0003t0014g0370	3	378	0.0079	-244	c.205 others(15): Show c.205-513_205-270del	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPH3AL_chr17_207389_357807	288589	ACACCCTC others(237): Show ACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19003.hp2 NA19004.hp1 others(1): Show HG00280.hp1 NA19003.hp2 NA19004.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0015t0007	a0001c0001t0001g0115 a0001c0001t0002g0010 a0001c0001t0003g0051 others(1): Show a0001c0001t0001g0115 a0001c0001t0002g0010 a0001c0001t0003g0051 a0001c0015t0007g0026	4	133	0.0301	-244	c.352 others(17): Show c.352-6979_352-6736del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCGB1C1_chr11_188078_199575	196120	GGGGACCT others(237): Show GGGGACCTGGTGAGGGGACATAGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGAGGGGGACCTTG GTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(107): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0003t0001g0003 a0001c0003t0001g0015 a0001c0004t0001g0009 others(3): Show a0001c0003t0001g0003 a0001c0003t0001g0015 a0001c0004t0001g0009 a0001c0005t0001g0004 a0001c0005t0001g0010 a0001c0005t0001g0016	110	354	0.3107	-244	c.16 others(11): Show c.1671_*1914del	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1546		chr11	TogoVar
SHC2_chr19_411589_466033	423099	TCCTCCAG others(237): Show TCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCC TGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGA CCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCC TCCCGCCCTGACCCTCACTCCCTGGTCTCCGGCCCCTCCAGCTCCTGGTC CTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGCC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	212	0.0047	-244	c.131 others(17): Show c.1310-887_1310-644del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SORCS2_chr4_7187538_7747827	7522696	TTTCCCCC others(237): Show TTTCCCCCATCCTTCCCCTTCTCCCGTTTTCCCTCCTTCCTTCCTTTCTT TCCTCTCCCTCCTTTTCCTCTTCCTTCCCTCCTTTATCCTCCCTCCCTTC CTCCTCCCTTTTCTCTCCCTGTCTCCCTTCTCCCTCCCTCCTCCCCCCAC TTCTTCCTCCCTTTTCCCTCCCTTTCTCCCCTCTTCCCTCCTCCCTCTTC TCTCCTCCCTCCTCCCTCTTCTCTCCTCCCTGTTCCCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(100): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA20752.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0014 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0026 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0034 a0001c0037 a0001c0038 a0001c0049 a0001c0051 a0002c0004 a0003c0012 a0003c0046 a0004c0007 a0005c0008 a0006c0018 a0006c0021 a0006c0022 a0008c0052 a0010c0040 a0014c0024 a0016c0019 a0017c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(80): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0032 a0001c0001t0050 a0001c0001t0057 a0001c0001t0068 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0035 a0001c0002t0041 a0001c0002t0043 a0001c0002t0047 a0001c0002t0053 a0001c0002t0061 a0001c0002t0065 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0019 a0001c0005t0001 a0001c0005t0004 a0001c0005t0014 a0001c0005t0042 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0009t0029 a0001c0010t0073 a0001c0011t0016 a0001c0015t0011 a0001c0017t0016 a0001c0026t0062 a0001c0028t0028 a0001c0029t0074 a0001c0030t0040 a0001c0031t0026 a0001c0034t0009 a0001c0037t0020 a0001c0038t0038 a0001c0049t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0014 a0002c0004t0024 a0002c0004t0056 a0003c0012t0055 a0003c0046t0001 a0004c0007t0001 a0005c0008t0001 a0006c0018t0059 a0006c0021t0070 a0006c0022t0039 a0008c0052t0004 a0010c0040t0004 a0014c0024t0049 a0016c0019t0018 a0017c0054t0022	a0001c0001t0002g0089 a0001c0001t0003g0098 a0001c0001t0004g0138 others(100): Show a0001c0001t0002g0089 a0001c0001t0003g0098 a0001c0001t0004g0138 a0001c0001t0005g0067 a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0006g0111 a0001c0001t0007g0063 a0001c0001t0008g0142 a0001c0001t0009g0014 a0001c0001t0009g0085 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0017g0003 a0001c0001t0018g0099 a0001c0001t0020g0052 a0001c0001t0023g0168 a0001c0001t0032g0141 a0001c0001t0050g0106 a0001c0001t0057g0094 a0001c0001t0068g0007 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0002t0004g0018 a0001c0002t0004g0028 a0001c0002t0005g0069 a0001c0002t0006g0077 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0007g0008 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0035g0090 a0001c0002t0041g0096 a0001c0002t0043g0070 a0001c0002t0047g0020 a0001c0002t0053g0082 a0001c0002t0061g0121 a0001c0002t0065g0004 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0003g0088 a0001c0003t0005g0079 a0001c0003t0008g0135 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0015g0034 a0001c0003t0015g0140 a0001c0003t0019g0023 a0001c0005t0001g0156 a0001c0005t0004g0101 a0001c0005t0014g0102 a0001c0005t0042g0157 a0001c0006t0001g0054 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0005g0165 a0001c0009t0029g0038 a0001c0010t0073g0167 a0001c0011t0016g0076 a0001c0015t0011g0002 a0001c0017t0016g0124 a0001c0026t0062g0049 a0001c0028t0028g0152 a0001c0029t0074g0162 a0001c0030t0040g0109 a0001c0031t0026g0144 a0001c0034t0009g0093 a0001c0037t0020g0017 a0001c0038t0038g0128 a0001c0049t0001g0059 a0001c0051t0001g0068 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0003g0012 a0002c0004t0003g0046 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0008g0078 a0002c0004t0014g0083 a0002c0004t0014g0110 a0002c0004t0024g0057 a0002c0004t0024g0114 a0002c0004t0056g0134 a0003c0012t0055g0033 a0003c0046t0001g0164 a0004c0007t0001g0126 a0005c0008t0001g0029 a0006c0018t0059g0145 a0006c0021t0070g0103 a0006c0022t0039g0153 a0008c0052t0004g0030 a0010c0040t0004g0024 a0014c0024t0049g0108 a0016c0019t0018g0027 a0017c0054t0022g0113	103	168	0.6131	-244	c.549 others(17): Show c.549-8809_549-8566del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132221682	GTCCCCAC others(237): Show GTCCCCACACACACAACTGATGCTGACGCACCTGGGCGAGTGTGAGGGCT TCACATGGCCGTCCCTGCACACACAACCAAAGCCAGCACACCTGGGCGAG TCTGAGGGCTTCATGTGGCCATCCCTGCACACACTCACAACTGACATCAA CGCACCTGGGTGAGTGTGAGGGCTTCACGTGGCCATCCCTGCACACACAA CTAATATCAACGCACCTGGGCAAGTGTGAGGGCTTCACGTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02615.hp2 others(3): Show HG01069.hp2 HG01071.hp2 HG02615.hp2 HG02622.hp1 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0002 a0001c0021t0002 a0001c0001t0002 a0001c0021t0002	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 others(3): Show a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0224 a0001c0001t0002g0285 a0001c0021t0002g0284	6	368	0.0163	-244	c.125 others(17): Show c.1251+715_1251+958del	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	10/11			chr10	TogoVar
TARS3_chr15_101648596_101729473	101692256	CCTCTCCT others(237): Show CCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCC ATCTCCTCACTTCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGT ATTACTACTCCATCTCCTCACTTCTCTCCTCCACGGCTCCAAGCTCTCTG TGGGTTCTGGTATTACTACTCCATCTCCTCACTTCTCTCCTCCACGGCTC CAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02109.hp2 others(1): Show HG01081.hp1 HG01243.hp1 HG02109.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0066 others(1): Show a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0082	4	278	0.0144	-244	c.132 others(19): Show c.1321-6438_1321-6195del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18			chr15	TogoVar
TRIML1_chr4_188134441_188152743	188152499	AGGGGGTG others(237): Show AGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGA GAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	228	0.0044	-244	c.51 others(11): Show c.5128_*5371del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4757		chr4	TogoVar
TSPAN9_chr12_3072379_3291559	3096443	TCTGAAGA others(237): Show TCTGAAGAGCAGAGGCCTTGGTTTTCCATTCACTGGTGCTTTCCCTGTTT TCTCATTGCCTGGCACCTGGTGGACACAGAAATATTTTTTGAATGAATGA ATGAATGAATATTGCACTTGTGATCTAAGAGATGTGGCCCTAATCTCATC CATTTCCCCAGGACACTTAGACACTTGCTTGCTTTAAAACCACCCATCTT CATATTGCAGGGGTTTCAAACATTTCAGGAGAGGCAGTGAGGATC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18989.hp1 HG03654.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0051 a0001c0001t0021 a0001c0001t0051	a0001c0001t0021g0120 a0001c0001t0051g0083 a0001c0001t0021g0120 a0001c0001t0051g0083	2	288	0.0069	-244	c.-18 others(19): Show c.-18+12725_-18+12968del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
UCKL1_chr20_63934829_63961416	63942077	GAATGGGG others(237): Show GAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	356	0.0028	-244	c.924 others(16): Show c.924-1113_924-870del	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
VWA8_chr13_41561835_41966109	41863189	AGCCTCCC others(237): Show AGCCTCCCAGCCTACATCTTTCTCGCGTGCTGGATGCTTCCTGCCCTCAA ACATCAGAGTCCACATTCTCCAGTTTTGAGACTTGGAGTGGCTCTCCTTG CTCCTCAAGCTTGCAGACAGCCTATTGTGGGACCTTGTGATGGTGTAAGT TAGTACTTAATAAACTCCTCTTTATATATATATATGTGTGTGTGTGTATC TCCTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	250	0.0040	-244	c.142 others(19): Show c.1425+2303_1425+2546del	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44			chr13	TogoVar
ZNF584_chr19_58403649_58423327	58410539	ATATATAT others(237): Show ATATATATATATATATATATGTGTATATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGTAT ATATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTAT ATATGTATATATATATGTATATATGTGTATATATATATGTATATATATAT ATGTGTGTATATATATATATATATGTATATATATATATAATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0263 a0003c0003t0004g0263	1	426	0.0024	-244	c.169 others(15): Show c.169+450_169+693del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410541	ATATATAT others(237): Show ATATATATATATATATATGTGTATATATATATGTATATATATGTATATAT ATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGTATAT ATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTATAT ATGTATATATATATGTATATATGTGTATATATATATGTATATATATATAT GTGTGTATATATATATATATATGTATATATATATATAATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00738.hp2 others(18): Show HG00280.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01934.hp1 HG02129.hp1 HG02698.hp1 HG02738.hp2 HG03195.hp2 HG03927.hp2 HG04199.hp1 NA18960.hp2 NA18983.hp1 NA19082.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0013 a0003c0003t0004 a0003c0003t0013	a0003c0003t0004g0004 a0003c0003t0004g0007 a0003c0003t0004g0256 others(8): Show a0003c0003t0004g0004 a0003c0003t0004g0007 a0003c0003t0004g0256 a0003c0003t0004g0257 a0003c0003t0004g0258 a0003c0003t0004g0259 a0003c0003t0004g0260 a0003c0003t0004g0261 a0003c0003t0004g0267 a0003c0003t0004g0318 a0003c0003t0013g0004	21	426	0.0493	-244	c.169 others(15): Show c.169+452_169+695del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410543	ATATATAT others(237): Show ATATATATATATATATGTGTATATATATATGTATATATATGTATATATAT GTATATATATGTATATATATGTGTATATATGTGTATATATGTGTATATAT ATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTATATAT GTATATATATATGTATATATGTGTATATATATATGTATATATATATATGT GTGTATATATATATATATATGTATATATATATATAATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02486.hp2 others(3): Show HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02717.hp2 HG03041.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0004 a0003c0005t0004 a0003c0003t0004 a0003c0005t0004	a0003c0003t0004g0009 a0003c0003t0004g0249 a0003c0005t0004g0009 a0003c0003t0004g0009 a0003c0003t0004g0249 a0003c0005t0004g0009	6	426	0.0141	-244	c.169 others(15): Show c.169+454_169+697del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCG1_chr21_42214140_42302244	42283739	ACCCCCCA others(236): Show ACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGTACCCCCCAACCCA GATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTC CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAG TTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCC GCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	354	0.0028	-243	c.735 others(15): Show c.735-804_735-562del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADGRA1_chr10_133082924_133136675	133135900	GGGCAGCT others(236): Show GGGCAGCTGGTCTCTGGGTCCCTGTGGGGGTTTCTGGTCTCTGGGTCCCT GTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTC CCTGTGGGGGGGTCTGGTCTCTGGGTACCTGTGGGGGCAGCTGGTCTCTG GGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTTGT CTCTGGGTCTCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01433.hp2 others(5): Show HG00642.hp1 HG01243.hp1 HG01433.hp2 HG02922.hp1 HG03017.hp2 HG04199.hp2 NA18522.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0017 a0001c0001t0040 a0001c0001t0045 others(2): Show a0001c0001t0017 a0001c0001t0040 a0001c0001t0045 a0001c0001t0053 a0001c0016t0060	a0001c0001t0017g0052 a0001c0001t0017g0130 a0001c0001t0017g0155 others(5): Show a0001c0001t0017g0052 a0001c0001t0017g0130 a0001c0001t0017g0155 a0001c0001t0017g0201 a0001c0001t0040g0025 a0001c0001t0045g0206 a0001c0001t0053g0303 a0001c0016t0060g0291	8	368	0.0217	-243	c.63 others(11): Show c.6390_*6632del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4226		chr10	TogoVar
ADGRL3_chr4_61195326_62083335	61847604	TAATATAT others(236): Show TAATATATTATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATATAATACAAAATATATTATA TATAATACAAAATATATATATAATACAAAATATATTATATATATAATATA AAATATATTATATATATATAATATAAAATATATATATAATATAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 NA19043.hp1 HG02886.hp2 NA18522.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0016 a0001c0001 a0003c0016	a0001c0001t0002 a0001c0001t0016 a0003c0016t0032 a0001c0001t0002 a0001c0001t0016 a0003c0016t0032	a0001c0001t0002g0014 a0001c0001t0016g0002 a0003c0016t0032g0053 a0001c0001t0002g0014 a0001c0001t0016g0002 a0003c0016t0032g0053	3	58	0.0517	-243	c.148 others(21): Show c.1480+33731_1480+33973del	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AMFR_chr16_56356452_56430545	56397910	TAATATAT others(236): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAAATGTATCATTTATAATATATAACTCTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00673.hp1 others(54): Show HG00099.hp1 HG00639.hp1 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp1 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18969.hp1 NA18979.hp2 NA18981.hp1 NA18987.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19077.hp2 NA19079.hp1 NA19087.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0053 a0001c0006t0055 a0004c0005t0001	a0001c0001t0001g0287 a0001c0001t0001g0315 a0001c0001t0005g0006 others(54): Show a0001c0001t0001g0287 a0001c0001t0001g0315 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0023 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0006g0010 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0009g0210 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0232 a0001c0001t0010g0158 a0001c0001t0020g0219 a0001c0001t0020g0221 a0001c0001t0020g0222 a0001c0001t0022g0014 a0001c0001t0022g0043 a0001c0001t0033g0013 a0001c0001t0034g0029 a0001c0001t0040g0294 a0001c0001t0041g0161 a0001c0001t0042g0169 a0001c0001t0046g0220 a0001c0001t0047g0214 a0001c0001t0053g0347 a0001c0006t0055g0349 a0004c0005t0001g0152	57	356	0.1601	-243	c.108 others(19): Show c.1085+3580_1085+3822del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
APCDD1_chr18_10449635_10494949	10462407	TTTCCTTC others(236): Show TTTCCTTCCTTCCTTCCTTTCCCCCTTGCTCCCTCTCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTCCCTTCCTTCCTTCCTG TGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG02818.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0236 a0001c0001t0012g0237 a0001c0001t0002g0236 a0001c0001t0012g0237	2	422	0.0047	-243	c.59- others(15): Show c.59-6043_59-5801del	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASMT_chrX_1610059_1648081	1637311	GCACAGCC others(236): Show GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	223	0.0045	-243	c.910 others(16): Show c.910+766_910+1008del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
B3GALT1_chr2_167288001_167879045	167563565	GGCGGGCT others(236): Show GGCGGGCTGGCCGGGCAGAGGGGCTCCCCACTTCCCAGCAGGGGCGGCTG GGCAGAGGCCCCTCACCTCGGGACGGGGCGGCTGGCCGGGGCGGCTGACC CCCCCACCTCCCCCGGAGGGAGCGGCTGGCCGGGCAGAGAGGCTCCCCAC CTCCCAGCAGCGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGACTCGGGGCTGACCCCCCCACCTCCCCCCCGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0004 a0001c0001t0025g0004	1	118	0.0085	-243	c.-41 others(21): Show c.-410+73293_-410+73535del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1B_chr9_137872782_138129619	138126461	CCCCCGGC others(236): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCTCAAGGCCATGACACCG TGAGCAAGAGGGCCCTCCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03209.hp2 NA20752.hp2 HG02486.hp2 HG03209.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0024 a0001c0002 a0005c0024	a0001c0002t0011 a0005c0024t0011 a0001c0002t0011 a0005c0024t0011	a0001c0002t0011g0052 a0005c0024t0011g0160 a0005c0024t0011g0162 a0001c0002t0011g0052 a0005c0024t0011g0160 a0005c0024t0011g0162	3	248	0.0121	-243	c.44 others(11): Show c.4463_*4705del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1843		chr9	TogoVar

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