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
YTHDC2_chr5_113508694_113600284	113587136	CATATATA others(251): Show CATATATAATATATAAATATATATTATGTATTCATATATAATATATAAAT ATATATTATGTATTCATATATAATATATAAATATATATTATGTATTCATA TATAATATATAAATATATATTATGTATTCATATATAATATATAAATATAT ATTATGTATTCATATATAATATATAAATATATATTATGTATTCATATATA ATATATAAATATATATTATGTATTCATATATAATATATAAATATATATTA TGTATTCAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0203 a0002c0012t0004g0203	1	316	0.0032	-258	c.382 others(19): Show c.3825+2663_3825+2920del	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF516_chr18_76352682_76500242	76393002	GGGCAGGT others(251): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG01928.hp1 others(2): Show HG01175.hp2 HG01255.hp1 HG01928.hp1 HG01993.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0039 a0001c0001t0066 others(2): Show a0001c0001t0002 a0001c0001t0039 a0001c0001t0066 a0001c0002t0005 a0001c0004t0076	a0001c0001t0002g0137 a0001c0001t0039g0188 a0001c0001t0066g0190 others(2): Show a0001c0001t0002g0137 a0001c0001t0039g0188 a0001c0001t0066g0190 a0001c0002t0005g0067 a0001c0004t0076g0062	5	346	0.0145	-258	c.181 others(21): Show c.1811-12957_1811-12700del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393071	AGGCAGGT others(251): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02055.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0073 a0001c0002t0090 a0001c0001t0073 a0001c0002t0090	a0001c0001t0073g0020 a0001c0002t0090g0119 a0001c0001t0073g0020 a0001c0002t0090g0119	2	346	0.0058	-258	c.181 others(21): Show c.1811-13026_1811-12769del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393402	AGGTGGTC others(251): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19079.hp2 HG03942.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0142 a0001c0001t0004 a0001c0001t0142	a0001c0001t0004g0194 a0001c0001t0142g0177 a0001c0001t0004g0194 a0001c0001t0142g0177	2	346	0.0058	-258	c.181 others(21): Show c.1811-13357_1811-13100del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394399	GGGCAGGT others(251): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	346	0.0029	-258	c.181 others(21): Show c.1811-14354_1811-14097del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF662_chr3_42901142_42924334	42912486	AATATATA others(251): Show AATATATATTTATATATTATATATTTGTATATTTAATATATAAATACATA TATTTATATATTTAATATAAATATATATATAAATACATATTTTATATATA AATATATTTATATAAAATACAAATATTTTTCTATAAAATATATATTTATA TATTTTATATATATATAAATATATATATATATTTTTTATATATATAAATA TATATATATTTTATATATATAAATATATATATATATTTTTTATATATATA AATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG02896.hp1 others(1): Show HG02630.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0003g0022 a0001c0001t0001g0022 a0001c0001t0003g0022	4	382	0.0105	-258	c.152 others(15): Show c.152-704_152-447del	ZNF662	ENSG00000182983.15	transcript	ENST00000440367.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZNF787_chr19_56082366_56126295	56104026	ACCGCCGA others(251): Show ACCGCCGACCCGTGCCACGCACCGGGAGGGTCCCTACGCACGACACCGCC GACCCGTGCCACGCACCGGGAGGGTCCCTACGCACGACACCGCCGACCCG TGCCACGCACCGGGAGGGTCCCTACGCACGCCGCCGACCCGTGCCACGCA CCGGGAGGGTCCCTACGCACGACACCGCCGACCCGTGCCACGCACCGGGA GGGTCCCTACGCACGACACCGCCGACCCGTGCCACGCACCGGGAGGGTCC CTACGCACG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0060 a0002c0003t0060	a0002c0003t0060g0294 a0002c0003t0060g0294	1	410	0.0024	-258	c.-10 others(16): Show c.-10-1057_-10-800del	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1327408	CCCACTGC others(250): Show CCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCCAGCG CCTCCTCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCCC AGCGCCTCCCCATGGCACAGCGCCTCCTCACTGCCCAGCGCCTCCTCACG GCCCAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCT CACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCTCACTGCCCAGCGCC TCCGCACT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18982.hp2 NA18984.hp2 others(1): Show HG02040.hp1 NA18982.hp2 NA18984.hp2 NA19011.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0015 a0001c0001 a0002c0002 a0005c0015	a0001c0001t0003 a0001c0001t0057 a0002c0002t0007 others(1): Show a0001c0001t0003 a0001c0001t0057 a0002c0002t0007 a0005c0015t0014	a0001c0001t0003g0098 a0001c0001t0057g0103 a0002c0002t0007g0004 others(1): Show a0001c0001t0003g0098 a0001c0001t0057g0103 a0002c0002t0007g0004 a0005c0015t0014g0008	4	106	0.0377	-257	c.107 others(21): Show c.1077+35363_1077+35619del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1699615	CCAATACA others(250): Show CCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACA CTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAAACC CACTTCCACCAGGGAGACCGGGGCACTCGCCAATACACACAATCCCACTC CACCGGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGG GAGACCAGGCACTCACCAATACACGCAATCCCACTCCACCGGGAGACCAG GCGCTAGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(59): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA18967.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19070.hp1 NA19086.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0004c0005 a0005c0015 a0006c0012 a0007c0011 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(45): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0001c0003t0040 a0001c0003t0060 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0026 a0002c0002t0027 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0048 a0002c0002t0053 a0002c0002t0063 a0002c0002t0064 a0002c0004t0047 a0002c0016t0006 a0003c0006t0067 a0004c0005t0002 a0004c0005t0037 a0005c0015t0014 a0006c0012t0007 a0007c0011t0034 a0011c0008t0016	a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0097 others(59): Show a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0051g0051 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0001c0003t0040g0073 a0001c0003t0060g0104 a0001c0007t0066g0105 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0022 a0002c0002t0005g0028 a0002c0002t0006g0011 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0004 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0047g0063 a0002c0016t0006g0010 a0003c0006t0067g0080 a0004c0005t0002g0039 a0004c0005t0037g0064 a0005c0015t0014g0008 a0006c0012t0007g0006 a0007c0011t0034g0076 a0011c0008t0016g0003	62	106	0.5849	-257	c.100 others(19): Show c.100+37179_100+37435del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
CDK12_chr17_39456486_39539544	39498950	TCTTTCTT others(250): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	260	0.0039	-257	c.242 others(19): Show c.2420-2295_2420-2039del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CNTN1_chr12_40687439_41077415	40749547	AGGTCATA others(250): Show AGGTCATAAAGAAAATGAGGAACTATCTATACAATGGTAATAGTAGTAGT TACATATGTGGTTTTGTTTTTTGTGTTTTGTTTTTTTATTTTTTTTTTCA TTTAATCCTTGAAACCACTCAGGCAACCAGCTTATTTATAATCATGCCAT TTTCATGGATAATAGAAAATAAAGTTCTGATAGGTTAAGTAACATGACCA AAATCACAGAGTTTACATTTCATGAAAAGTAAATCTATATGTCGTGGCAA TAGGTGTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(45): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02886.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG04115.hp1 NA18943.hp2 NA18957.hp2 NA18959.hp1 NA18973.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA19007.hp1 NA19012.hp2 NA19043.hp1 NA19062.hp1 NA19240.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0001c0002t0027 a0001c0003t0003 a0001c0005t0002 a0001c0006t0006 a0001c0009t0004 a0001c0013t0001 a0005c0010t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 others(45): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0003g0023 a0001c0001t0004g0029 a0001c0001t0005g0020 a0001c0001t0012g0012 a0001c0001t0014g0074 a0001c0001t0018g0048 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0027g0041 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0005t0002g0062 a0001c0006t0006g0015 a0001c0006t0006g0017 a0001c0006t0006g0018 a0001c0006t0006g0021 a0001c0009t0004g0046 a0001c0013t0001g0050 a0005c0010t0002g0026	48	230	0.2087	-257	c.-77 others(19): Show c.-77+56957_-77+57213del	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPNE7_chr16_89570758_89602246	89587785	CCGTGTCA others(250): Show CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0131 a0001c0002t0004g0131	1	348	0.0029	-257	c.927 others(15): Show c.927+716_928-601del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCDC2C_chr2_3698575_3853008	3800605	TAAGTGCT others(250): Show TAAGTGCTTTTTCTTGAGATAATCGTGTGGCTTCAATGCGCACCAGAAGT GCTTCATGAGTTCTTCTCATTTCCTTACACAGGATATTACAAAGGTCATG TGCTCAAGGTCAGTGTTTAATAACATTCATAGTTTTCATTCCTTCATGAA GGACATTTTAAGTGACATTGGCATTTTCTCAAACACTGCAAGTGTGTTGA AGTGAGTGATTTGGTGGCAGTGAGTACGGCTGGGAGCAGTGGCTTTGATT AGTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(53): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01496.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02293.hp1 HG03239.hp1 HG03942.hp1 NA18612.hp1 NA18941.hp1 NA18953.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp1 NA19090.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0003 a0001c0002t0007 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0003	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 others(53): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0098 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0267 a0001c0001t0004g0282 a0001c0001t0004g0300 a0001c0001t0005g0049 a0001c0001t0005g0322 a0001c0001t0006g0116 a0001c0001t0006g0144 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0009g0060 a0001c0001t0009g0273 a0001c0001t0009g0278 a0001c0002t0003g0124 a0001c0002t0003g0129 a0001c0002t0007g0130 a0001c0002t0007g0131 a0002c0003t0001g0204 a0002c0003t0003g0189 a0002c0003t0003g0191 a0002c0004t0001g0187 a0002c0004t0003g0181 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0193 a0002c0004t0003g0197 a0002c0004t0003g0202 a0002c0004t0003g0203	56	324	0.1728	-257	c.106 others(21): Show c.1065+15506_1065+15762del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10			chr2	TogoVar
ERC1_chr12_986223_1500931	1085964	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp2 HG04199.hp2 others(1): Show HG02280.hp1 HG03225.hp2 HG04199.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0086 a0001c0001t0110 others(1): Show a0001c0001t0004 a0001c0001t0086 a0001c0001t0110 a0001c0001t0111	a0001c0001t0004g0078 a0001c0001t0086g0060 a0001c0001t0110g0013 others(1): Show a0001c0001t0004g0078 a0001c0001t0086g0060 a0001c0001t0110g0013 a0001c0001t0111g0017	4	162	0.0247	-257	c.108 others(19): Show c.1086+2394_1086+2650del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1086549	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0014 a0001c0001t0109g0014	1	162	0.0062	-257	c.108 others(19): Show c.1086+2979_1086+3235del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087007	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01175.hp1 others(22): Show HG00544.hp2 HG00741.hp2 HG01175.hp1 HG01192.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp1 HG01981.hp1 HG02602.hp2 HG02717.hp1 HG02735.hp2 HG02976.hp1 HG03195.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03927.hp1 NA18612.hp1 NA18966.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0007c0012	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(20): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0071 a0001c0001t0090 a0001c0001t0091 a0001c0001t0094 a0001c0001t0095 a0001c0001t0107 a0001c0001t0109 a0001c0001t0121 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0003t0088 a0001c0013t0063 a0002c0002t0042 a0002c0002t0084 a0007c0012t0073	a0001c0001t0001g0076 a0001c0001t0009g0007 a0001c0001t0012g0018 others(22): Show a0001c0001t0001g0076 a0001c0001t0009g0007 a0001c0001t0012g0018 a0001c0001t0013g0005 a0001c0001t0013g0015 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0023 a0001c0001t0027g0119 a0001c0001t0071g0074 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0094g0016 a0001c0001t0095g0019 a0001c0001t0107g0006 a0001c0001t0109g0014 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0001t0125g0033 a0001c0001t0126g0030 a0001c0003t0088g0021 a0001c0013t0063g0077 a0002c0002t0042g0079 a0002c0002t0084g0025 a0007c0012t0073g0067	25	162	0.1543	-257	c.108 others(19): Show c.1086+3437_1086+3693del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087072	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0131 a0002c0002t0131	a0002c0002t0131g0065 a0002c0002t0131g0065	1	162	0.0062	-257	c.108 others(19): Show c.1086+3502_1086+3758del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088050	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19090.hp1 HG00741.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0109 a0001c0001t0012 a0001c0001t0109	a0001c0001t0012g0022 a0001c0001t0109g0014 a0001c0001t0012g0022 a0001c0001t0109g0014	2	162	0.0124	-257	c.108 others(19): Show c.1086+4480_1086+4736del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088115	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG02970.hp1 others(2): Show HG01891.hp2 HG02809.hp1 HG02970.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0048 a0002c0002t0064 others(2): Show a0001c0001t0004 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075	a0001c0001t0004g0075 a0002c0002t0048g0070 a0002c0002t0064g0069 others(2): Show a0001c0001t0004g0075 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073	5	162	0.0309	-257	c.108 others(19): Show c.1086+4545_1086+4801del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088428	ATTATTAT others(250): Show ATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCC TATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTAT TATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGC CTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0054 a0002c0002t0054	a0002c0002t0054g0135 a0002c0002t0054g0135	1	162	0.0062	-257	c.108 others(19): Show c.1086+4860_1086+5116del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088493	ATTATTAT others(250): Show ATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCC TATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTAT TATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGC CTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG01891.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0074 a0002c0002t0060 a0001c0001t0074 a0002c0002t0060	a0001c0001t0074g0039 a0002c0002t0060g0040 a0001c0001t0074g0039 a0002c0002t0060g0040	2	162	0.0124	-257	c.108 others(19): Show c.1086+4925_1086+5181del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088765	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01192.hp2 others(13): Show HG00738.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp2 HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA18949.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0086 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0119 a0001c0013t0063 a0002c0002t0035 a0002c0002t0115 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096	a0001c0001t0001g0076 a0001c0001t0007g0044 a0001c0001t0007g0048 others(13): Show a0001c0001t0001g0076 a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0011g0034 a0001c0001t0086g0060 a0001c0001t0108g0064 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0119g0061 a0001c0013t0063g0077 a0002c0002t0035g0143 a0002c0002t0115g0049 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063	16	162	0.0988	-257	c.108 others(19): Show c.1086+5195_1086+5451del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089158	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01106.hp1 others(18): Show HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp2 HG02129.hp2 HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18949.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0001c0013 others(3): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0003c0004 a0008c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0086 a0001c0001t0087 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0003t0092 a0001c0013t0063 a0002c0002t0035 a0002c0002t0115 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0007g0044 others(18): Show a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0011g0034 a0001c0001t0086g0060 a0001c0001t0087g0046 a0001c0001t0108g0064 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0119g0061 a0001c0003t0092g0004 a0001c0013t0063g0077 a0002c0002t0035g0143 a0002c0002t0115g0049 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0008c0011t0044g0068	21	162	0.1296	-257	c.108 others(19): Show c.1086+5588_1086+5844del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089341	ATTATTAT others(250): Show ATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCC TATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTAT TATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGC CTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0066 a0001c0001t0045g0066	1	162	0.0062	-257	c.108 others(19): Show c.1086+5773_1086+6029del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089808	GTTGTTGT others(250): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG02965.hp2 HG00323.hp1 HG00738.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0093 a0001c0001t0118 a0001c0001t0003 a0001c0001t0093 a0001c0001t0118	a0001c0001t0003g0029 a0001c0001t0093g0008 a0001c0001t0118g0026 a0001c0001t0003g0029 a0001c0001t0093g0008 a0001c0001t0118g0026	3	162	0.0185	-257	c.108 others(19): Show c.1086+6238_1086+6494del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806501	TCCCCCCT others(250): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	314	0.0032	-257	c.23 others(11): Show c.2336_*2592del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2215		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806536	TCCCCCCT others(250): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	314	0.0032	-257	c.23 others(11): Show c.2371_*2627del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2250		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806763	CCCCCCTC others(250): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	314	0.0032	-257	c.25 others(11): Show c.2598_*2854del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2477		chr2	TogoVar
GALR1_chr18_77244848_77282900	77258929	CATGGTGG others(250): Show CATGGTGGTGATGATGGTGGTCATGGTGGTCATGGTGGCGATTGTGGTGA TGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGT GGTGGTCATGATGGTCATGGTGGTGATGATGGTGGTCATGGTGGTCATGG TGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTCACAGTGGTGGTGGT GTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTGATGATGG TGGTGATG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0321 a0001c0004t0028g0321	1	366	0.0027	-257	c.732 others(17): Show c.732+2735_732+2991del	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
LRBA_chr4_150259435_151020284	150420387	GTATATAT others(250): Show GTATATATAAAGTATATATAATACACATTATAGTATATATAAAGTATATA TAATACATATATAATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATATATAAA GTATATATAATACACATTATAATATATATAAAGTATATATAATACACATT ATAATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01099.hp2 HG01167.hp1 others(22): Show HG00597.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01255.hp2 HG01517.hp2 HG01934.hp1 HG02027.hp1 HG02055.hp1 HG02074.hp1 HG02129.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03654.hp2 NA18962.hp1 NA18984.hp1 NA18986.hp1 NA19030.hp1 NA19060.hp1 NA19062.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0005 a0001c0032 others(5): Show a0001c0001 a0001c0005 a0001c0032 a0001c0037 a0002c0002 a0002c0003 a0002c0015 a0019c0033	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0032t0001 a0001c0037t0003 a0002c0002t0007 a0002c0003t0001 a0002c0015t0001 a0019c0033t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0070 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0005t0001g0160 a0001c0032t0001g0171 a0001c0037t0003g0175 a0002c0002t0007g0130 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0015t0001g0048 a0019c0033t0001g0074	25	180	0.1389	-257	c.704 others(19): Show c.7042-5054_7042-4798del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150420419	GTATATAT others(250): Show GTATATATAAAGTATATATAATACATATATAATATATAAAGTATATATAA TACACATTATAATATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATATATAAA GTATATATAATACACATTATAATATATATAAAGTATATATAATACACATT ATAATATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19004.hp1 NA19060.hp2 others(2): Show HG03041.hp1 NA19004.hp1 NA19060.hp2 NA19240.hp1 NA21309.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0029 a0001c0001 a0015c0029	a0001c0001t0002 a0001c0001t0004 a0015c0029t0001 a0001c0001t0002 a0001c0001t0004 a0015c0029t0001	a0001c0001t0002g0022 a0001c0001t0002g0057 a0001c0001t0002g0107 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0057 a0001c0001t0002g0107 a0001c0001t0004g0065 a0015c0029t0001g0017	5	180	0.0278	-257	c.704 others(19): Show c.7042-5086_7042-4830del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LRP1_chr12_57123483_57218361	57207123	GTCCCAGC others(250): Show GTCCCAGCTACTTGGGAAGCTGGGGCAGGAGAATGGCATGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG AGAGAGTGAGACTCGGTCTCTAAATAAATAAATAAATAAATAAATAAATA AATAAATAAATAGAGACTCGGTCTCTAAATAAATAAATAAATAAATAAAT AAAATAAAATAAAATAAAAATACAAAGATTAGCCAGGCGTGGTGGCGGGC GCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0060 a0001c0003t0016g0060	1	276	0.0036	-257	c.118 others(19): Show c.11859+394_11860-647del	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	76/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLPH_chr2_237482251_237560322	237543095	GGGACAGT others(250): Show GGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAGTA GGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTG AGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTGG TGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAG TGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	286	0.0035	-257	c.153 others(17): Show c.1539+439_1539+695del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241806501	TCCCCCCT others(250): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA20129.hp1 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0010 a0001c0004t0001g0112 a0001c0001t0003g0010 a0001c0004t0001g0112	2	319	0.0063	-257	c.-27 others(11): Show c.-2776_-2520del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2691		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806536	TCCCCCCT others(250): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	319	0.0031	-257	c.-27 others(11): Show c.-2741_-2485del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2656		chr2	TogoVar
PLPPR5_chr1_98885245_99009861	98990624	ATTAAACA others(250): Show ATTAAACAAAAAATGAAATGAATATACATGAAGAAAATATTAGAAATCAG TGATGATTAGGAAATAAAGTAAAACTAAAGACTTGAGTTTTGGAAAAATA ATTTGGACTTTATAACCTAGGCCTCTATGGATGGGCAGTACGCCTAAATA TATTTTCTCATAAAAATTTTCTTTCATTCAAGTGCCCAGGAAATTATTAA CAGTCTTAAAGAAACAAGAGTGTCTAAACTAATTTTAATTTCTATTAATT TTATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18522.hp2 HG02055.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0171 a0001c0001t0009g0172 a0001c0001t0005g0171 a0001c0001t0009g0172	2	280	0.0071	-257	c.237 others(19): Show c.237+13554_237+13810del	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	1/5			chr1	TogoVar
PTPRH_chr19_55176247_55214501	55208422	TCTGGACT others(250): Show TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGG GCCTGAAGGAGGAGGGACTGGGGGTCTGGACCCCTGAGTCTGAGGGAAGA GGGGCTGGGGGTCTGGACTCCTGAGTCTGAGGGAGGAGGGGTTGGGGGCC TGGACTCTTGGTTTGAGGGAGGAAGGGCTGGGGGCCTGGACTCCCGGGTC TGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0126 a0001c0041t0001g0126	1	378	0.0027	-257	c.51+ others(13): Show c.51+704_51+960del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208652	TGGGTCTG others(250): Show TGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGGA GGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG TCTGGACTCCTGGGCCTGAAGGAGGAGGGACTGGGGGTCTGGACCCCTGA GTCTGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGAGTCTGAGGGAGGA GGGGTTGGGGGCCTGGACTCTTGGTTTGAGGGAGGAAGGGCTGGGGGCCT GGACTCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02895.hp1 others(7): Show HG01109.hp2 HG01243.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0032 a0040	a0001c0014 a0002c0005 a0003c0007 others(4): Show a0001c0014 a0002c0005 a0003c0007 a0005c0006 a0007c0011 a0032c0115 a0040c0069	a0001c0014t0001 a0002c0005t0002 a0003c0007t0003 others(4): Show a0001c0014t0001 a0002c0005t0002 a0003c0007t0003 a0005c0006t0001 a0007c0011t0001 a0032c0115t0002 a0040c0069t0001	a0001c0014t0001g0044 a0001c0014t0001g0049 a0002c0005t0002g0013 others(6): Show a0001c0014t0001g0044 a0001c0014t0001g0049 a0002c0005t0002g0013 a0003c0007t0003g0045 a0005c0006t0001g0043 a0005c0006t0001g0046 a0007c0011t0001g0048 a0032c0115t0002g0035 a0040c0069t0001g0047	10	378	0.0265	-257	c.51+ others(13): Show c.51+474_51+730del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RASGEF1C_chr5_180095795_180214211	180096119	TTGCTGTC others(250): Show TTGCTGTCTTCCTTCCTTCTTTCCTTCCTTCCCTCCTTCCTTCCTCCCTT CCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTCTTCCTCCCTTC CTTCCCTCCTTCCCTCCCTCCCTTCCTTCCTGTCTTCCTTCCTTCCTTCC TGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTCTTCCTCCCTTCCT TCCCTCCTTCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTC CCTTCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02109.hp2 others(8): Show HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0083 a0001c0002t0013 a0001c0002t0023 others(3): Show a0001c0001t0083 a0001c0002t0013 a0001c0002t0023 a0001c0002t0035 a0001c0002t0042 a0001c0002t0052	a0001c0001t0083g0369 a0001c0002t0013g0197 a0001c0002t0013g0286 others(8): Show a0001c0001t0083g0369 a0001c0002t0013g0197 a0001c0002t0013g0286 a0001c0002t0013g0318 a0001c0002t0023g0345 a0001c0002t0023g0348 a0001c0002t0023g0349 a0001c0002t0035g0063 a0001c0002t0035g0087 a0001c0002t0042g0001 a0001c0002t0052g0012	11	370	0.0297	-257	c.51 others(11): Show c.5125_*5381del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4675		chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1289715	CCCTGCTC others(250): Show CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0132 a0012c0022t0006g0132	1	290	0.0035	-257	c.166 others(17): Show c.1663-555_1663-299del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SDHA_chr5_213320_262082	261582	CCAGAGCA others(250): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC CCTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	266	0.0038	-257	c.51 others(11): Show c.5163_*5419del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4501		chr5	TogoVar
SDHA_chr5_213320_262082	261649	GAGCATTA others(250): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCG CCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp2 others(45): Show HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01071.hp2 HG01256.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG02074.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18952.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp2 NA19066.hp1 NA19068.hp1 NA19078.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0010 others(1): Show a0001c0001 a0001c0009 a0001c0010 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(35): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0003g0044 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0073 a0001c0009t0002g0063 a0001c0010t0002g0030 a0001c0011t0002g0074	48	266	0.1805	-257	c.52 others(11): Show c.5230_*5486del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4568		chr5	TogoVar
SKI_chr1_2223319_2315213	2281383	GGACGCCC others(250): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0055 a0001c0001t0028g0055	1	330	0.0030	-257	c.970 others(19): Show c.970-21593_970-21337del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7724674	GGTAGTGG others(250): Show GGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTATTGGTGG GAATGGATGGTGGTAGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGT GGTGATGGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGG CAGTGATGATGGTGGAGGTGATGGTGGTAGTGGTGATGGTGGTGGTAGTG GTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTATTGGTGGGAATGGA TGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 NA19240.hp2 HG01884.hp1 HG02109.hp1 NA19240.hp2	a0001 a0009 a0013 a0001 a0009 a0013	a0001c0001 a0009c0025 a0013c0032 a0001c0001 a0009c0025 a0013c0032	a0001c0001t0020 a0009c0025t0031 a0013c0032t0030 a0001c0001t0020 a0009c0025t0031 a0013c0032t0030	a0001c0001t0020g0052 a0009c0025t0031g0025 a0013c0032t0030g0149 a0001c0001t0020g0052 a0009c0025t0031g0025 a0013c0032t0030g0149	3	168	0.0179	-257	c.261 others(17): Show c.2612-438_2612-182del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
STRC_chr15_43594563_43623800	43622808	AGCTGGGA others(250): Show AGCTGGGATTACAGGCATGTGCCACCACCCCCAGCTATTTTTTGTATTTT TAGTAGAGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGCCG TGACCACCACACCTGGCCAGTAAGTGTCTTTTTTGTGGTCTATCTAGTGA TGCACTTTTTGCATTTTGGGGCTATTTGTTGGTGATTTCACTGTTTAAAA TGGCCCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG04115.hp2 HG02738.hp2 HG03688.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0015t0001 a0002c0002t0001 a0002c0015t0001	a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0015t0001g0070 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0015t0001g0070	3	374	0.0080	-257	c.-43 others(11): Show c.-4343_-4087del	STRC	ENSG00000242866.10	transcript	ENST00000450892.7	protein_coding		4009		chr15	TogoVar
THOP1_chr19_2780503_2820807	2818222	ACAGAGCA others(250): Show ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGAC CAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGATG ACTAAGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(105): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01123.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19009.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp1 NA19070.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0009	a0001c0001 a0004c0004 a0007c0012 others(1): Show a0001c0001 a0004c0004 a0007c0012 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0033 a0004c0004t0002 a0004c0004t0012 a0007c0012t0002 a0009c0013t0002	a0001c0001t0001g0222 a0001c0001t0002g0002 a0001c0001t0002g0004 others(72): Show a0001c0001t0001g0222 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0101 a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0188 a0001c0001t0005g0006 a0001c0001t0005g0047 a0001c0001t0005g0080 a0001c0001t0005g0175 a0001c0001t0007g0002 a0001c0001t0007g0017 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0012g0233 a0001c0001t0014g0020 a0001c0001t0015g0013 a0001c0001t0016g0021 a0001c0001t0016g0215 a0001c0001t0023g0183 a0001c0001t0033g0174 a0004c0004t0002g0002 a0004c0004t0002g0078 a0004c0004t0002g0223 a0004c0004t0012g0002 a0007c0012t0002g0009 a0009c0013t0002g0192	108	370	0.2919	-257	c.49 others(11): Show c.4947_*5203del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2416		chr19	TogoVar
TNK2_chr3_195858364_195913551	195880832	ATGCCCCT others(250): Show ATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTAACACCCGCCCCCCA GCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCA GCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACACCCGCCCC CAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACACCACCC GCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAACACCCC CCCAGCAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18939.hp2 NA18993.hp1 HG03579.hp1 NA18939.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0001c0001t0001 a0001c0002t0001 a0001c0013t0001	a0001c0001t0001g0165 a0001c0002t0001g0225 a0001c0013t0001g0145 a0001c0001t0001g0165 a0001c0002t0001g0225 a0001c0013t0001g0145	3	372	0.0081	-257	c.887 others(16): Show c.887+962_887+1218del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TTLL8_chr22_50013575_50063298	50029062	CCCCACAC others(250): Show CCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCAT CCTGAAGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG03139.hp1 others(1): Show HG01243.hp2 HG01891.hp1 HG03139.hp1 HG03579.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0009 a0004c0004 a0009c0009	a0004c0004t0001 a0009c0009t0001 a0004c0004t0001 a0009c0009t0001	a0004c0004t0001g0024 a0004c0004t0001g0129 a0009c0009t0001g0058 others(1): Show a0004c0004t0001g0024 a0004c0004t0001g0129 a0009c0009t0001g0058 a0009c0009t0001g0062	4	224	0.0179	-257	c.225 others(19): Show c.2251+1111_2251+1367del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ZNF554_chr19_2814868_2841735	2818222	ACAGAGCA others(250): Show ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGAC CAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGATG ACTAAGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(109): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG01081.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19062.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0012	a0001c0001 a0001c0004 a0001c0006 others(8): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0017 a0002c0005 a0004c0014 a0005c0019 a0012c0016	a0001c0001t0003 a0001c0004t0003 a0001c0004t0017 others(19): Show a0001c0001t0003 a0001c0004t0003 a0001c0004t0017 a0001c0004t0043 a0001c0004t0046 a0001c0006t0006 a0001c0006t0008 a0001c0006t0013 a0001c0006t0016 a0001c0006t0025 a0001c0006t0027 a0001c0006t0051 a0001c0007t0010 a0001c0007t0023 a0001c0012t0024 a0001c0015t0003 a0001c0017t0008 a0002c0005t0004 a0002c0005t0021 a0004c0014t0052 a0005c0019t0012 a0012c0016t0006	a0001c0001t0003g0299 a0001c0004t0003g0020 a0001c0004t0003g0021 others(97): Show a0001c0001t0003g0299 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0036 a0001c0004t0003g0037 a0001c0004t0003g0041 a0001c0004t0003g0219 a0001c0004t0003g0222 a0001c0004t0003g0225 a0001c0004t0003g0228 a0001c0004t0003g0234 a0001c0004t0003g0240 a0001c0004t0003g0246 a0001c0004t0003g0247 a0001c0004t0003g0255 a0001c0004t0003g0256 a0001c0004t0003g0262 a0001c0004t0003g0263 a0001c0004t0003g0274 a0001c0004t0003g0276 a0001c0004t0003g0279 a0001c0004t0003g0291 a0001c0004t0003g0292 a0001c0004t0003g0298 a0001c0004t0003g0301 a0001c0004t0003g0302 a0001c0004t0003g0306 a0001c0004t0003g0307 a0001c0004t0003g0314 a0001c0004t0003g0315 a0001c0004t0003g0319 a0001c0004t0003g0322 a0001c0004t0017g0277 a0001c0004t0043g0273 a0001c0004t0046g0251 a0001c0006t0006g0038 a0001c0006t0006g0045 a0001c0006t0006g0223 a0001c0006t0006g0230 a0001c0006t0006g0232 a0001c0006t0006g0233 a0001c0006t0006g0258 a0001c0006t0006g0259 a0001c0006t0006g0264 a0001c0006t0006g0265 a0001c0006t0006g0293 a0001c0006t0008g0220 a0001c0006t0008g0227 a0001c0006t0008g0245 a0001c0006t0008g0252 a0001c0006t0008g0253 a0001c0006t0013g0044 a0001c0006t0013g0244 a0001c0006t0013g0290 a0001c0006t0016g0317 a0001c0006t0025g0249 a0001c0006t0025g0295 a0001c0006t0027g0260 a0001c0006t0027g0261 a0001c0006t0051g0250 a0001c0007t0010g0248 a0001c0007t0010g0296 a0001c0007t0023g0320 a0001c0012t0024g0224 a0001c0015t0003g0275 a0001c0017t0008g0020 a0002c0005t0004g0039 a0002c0005t0004g0040 a0002c0005t0004g0042 a0002c0005t0004g0229 a0002c0005t0004g0235 a0002c0005t0004g0237 a0002c0005t0004g0238 a0002c0005t0004g0241 a0002c0005t0004g0242 a0002c0005t0004g0257 a0002c0005t0004g0266 a0002c0005t0004g0267 a0002c0005t0004g0268 a0002c0005t0004g0269 a0002c0005t0004g0270 a0002c0005t0004g0271 a0002c0005t0004g0272 a0002c0005t0004g0280 a0002c0005t0004g0282 a0002c0005t0004g0283 a0002c0005t0004g0285 a0002c0005t0004g0289 a0002c0005t0004g0297 a0002c0005t0004g0303 a0002c0005t0004g0304 a0002c0005t0004g0305 a0002c0005t0004g0310 a0002c0005t0004g0313 a0002c0005t0004g0321 a0002c0005t0021g0254 a0002c0005t0021g0284 a0004c0014t0052g0226 a0005c0019t0012g0218 a0012c0016t0006g0278	112	410	0.2732	-257	c.-18 others(11): Show c.-1849_-1593del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1645		chr19	TogoVar
ARHGAP24_chr4_85470150_86007666	85875008	ATAAGTTA others(249): Show ATAAGTTATATAAAATATTTATATATACTATATTATTTATATATAATATA TTTGTTTTATATATTATATTATATATAATATATTTATCTTATATATTATA TTATATATAATATATTTATCTTATATATTATATTATATATAATATATTTA TCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTAT ATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCTT ATATATT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0064 a0005c0009t0002g0064	1	108	0.0093	-256	c.269 others(19): Show c.269-48639_269-48384del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9			chr4	TogoVar

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Search Results (Total: 10000 hits)