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
ABR_chr17_998519_1184981	1117488	TGAGTCCT others(167): Show TGAGTCCTCCCCAGCGTTATCCCTGAGCCGGAGTTCCTCCCAGCATTATC CCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCA GCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGT TCCTCCCAGCGTTATCCCTGAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 NA21309.hp1 HG00738.hp1 HG01074.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0004t0048 a0002c0005t0001 a0001c0001t0001 a0001c0004t0048 a0002c0005t0001	a0001c0001t0001g0071 a0001c0004t0048g0198 a0002c0005t0001g0197 a0001c0001t0001g0071 a0001c0004t0048g0198 a0002c0005t0001g0197	3	337	0.0089	-174	c.246 others(17): Show c.246+7521_246+7694del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
AFDN_chr6_167821911_167977023	167940529	GGAGAGAT others(167): Show GGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAAC CATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAGCCATCCACAGGAGACATGTGGACAGACACAGAGGGATGTAGGT GTGAGGGTGGAAACCATCCACAGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG01109.hp2 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0017 a0001c0007 a0002c0017	a0001c0007t0005 a0002c0017t0005 a0001c0007t0005 a0002c0017t0005	a0001c0007t0005g0273 a0002c0017t0005g0285 a0001c0007t0005g0273 a0002c0017t0005g0285	2	326	0.0061	-174	c.310 others(19): Show c.3100-2595_3100-2422del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15322447	TATATATA others(167): Show TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATAAATATATATAAATATATAAATA TATATAAATATATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02886.hp1 HG01884.hp2 HG02055.hp2 HG02886.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0007c0024 a0008c0023 a0002c0002 a0007c0024 a0008c0023	a0002c0002t0004 a0007c0024t0004 a0008c0023t0007 a0002c0002t0004 a0007c0024t0004 a0008c0023t0007	a0002c0002t0004g0024 a0007c0024t0004g0224 a0008c0023t0007g0227 a0002c0002t0004g0024 a0007c0024t0004g0224 a0008c0023t0007g0227	3	236	0.0127	-174	c.126 others(21): Show c.1263+42893_1263+43066del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132758943	CGCAGTGT others(167): Show CGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGA GTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCA CCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGG GGCACCCACGTGGCAGAGTGGATCA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG04184.hp1 NA18950.hp2 HG00423.hp2 HG04184.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0016t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0016t0001g0060	3	350	0.0086	-174	c.181 others(17): Show c.181+2501_181+2674del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759034	GGAGTGGC others(167): Show GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTG GCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCC GGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCA CCCACGTGGCAGAGTGGATCATGCA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02615.hp2 HG03471.hp2 others(2): Show HG01258.hp2 HG02615.hp2 HG03471.hp2 NA18978.hp2 NA18997.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0254 a0003c0003t0001g0186 a0003c0003t0001g0279	5	350	0.0143	-174	c.181 others(17): Show c.181+2410_181+2583del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANO9_chr11_412938_447011	425023	GGCGTGGA others(167): Show GGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGG GACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAA AAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGA GACGGGACGCGCGGGAGGAAAAGGC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	286	0.0035	-174	c.133 others(19): Show c.1334+2891_1334+3064del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
ANO9_chr11_412938_447011	425080	GGGAGGAA others(167): Show GGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGG CGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGA CGCGCGGGAGGAAAAGGCGGCGTGGAGCGACGGGACGCGCGGGAGGAAAA GGCGGCGTGGAGAGACGGGACGCGC	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	286	0.0035	-174	c.133 others(19): Show c.1334+2834_1334+3007del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
ANO9_chr11_412938_447011	425121	AAAAGGCG others(167): Show AAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGA GAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGCGACGGGACGCGCG GGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGCAAAAGGCGGC GTGGAGAGACGGGACGCGCGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	286	0.0035	-174	c.133 others(19): Show c.1334+2793_1334+2966del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
AUTS2_chr7_69593475_70798506	70107867	CTGGGCAT others(167): Show CTGGGCATGGTGGGCGTGCCTGTAATCCCAGCTACCCCGGAGGCTGAGGC AGGAGAATGGCGTGAACCCAGTAGGCGGAGCTTGCAGTGAGCTGAGATTA TGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAA AAAAAAAAAGTTTAACTCTAGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	76	0.0132	-174	c.523 others(19): Show c.523-10261_523-10088del	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GALT6_chr1_1227237_1240041	1227292	GGCGGGAA others(167): Show GGCGGGAAGGCGAGCTCGTGGCCAGGCCCTGCGGGAAGGCGAGCTCGTGG CCAGGCCCGGCGGGAAGGCGAGCTCGTGGCCAGGCCCGGCGGGAAGGCGA GCTCGTGGCCAGGCCCGGCGGGAAGGCGAGCTCGTGGCCAGGCCCTGCGG GAAGGCGAGCTCGTGGCCAGGCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(49): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01255.hp2 HG01358.hp2 HG01516.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02523.hp1 HG02717.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03831.hp2 NA18747.hp2 NA18940.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp1 NA18966.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0018 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0018 a0001c0002t0023 a0002c0003t0002 a0002c0003t0016	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0018g0000 others(3): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0018g0000 a0001c0002t0023g0000 a0002c0003t0002g0000 a0002c0003t0016g0000	52	366	0.1421	-174	c.-49 others(11): Show c.-4986_-4813del	B3GALT6	ENSG00000176022.7	transcript	ENST00000379198.5	protein_coding		4944		chr1	TogoVar
B3GNTL1_chr17_82937149_83056770	82984107	TGTGAGCA others(167): Show TGTGAGCACATGGGGGAGAGGCCACGTGAGGACGTGGGGGAGGGGAGAGG CCACGTGAGCACACAGAAGAGAGGCCATATGATCACGCAGGGGAGAGGCC ACATGAGGACGTGGGGGAGGGGAGAGGCCACGTGAGCACACAGGAGGCCA TATGATCACGCAGGGGAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 HG02055.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0148 a0001c0001t0015g0249 a0001c0001t0012g0148 a0001c0001t0015g0249	2	266	0.0075	-174	c.460 others(19): Show c.460-18535_460-18362del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82984117	TGGGGGAG others(167): Show TGGGGGAGAGGCCACGTGAGGACGTGGGGGAGGGGAGAGGCCACGTGAGC ACACAGAAGAGAGGCCATATGATCACGCAGGGGAGAGGCCACATGAGGAC GTGGGGGAGGGGAGAGGCCACGTGAGCACACAGGAGGCCATATGATCACG CAGGGGAGAGGCCACGTGAGCACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00621.hp1 others(74): Show HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01981.hp1 HG02027.hp1 HG02132.hp1 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18980.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0005 a0002c0015 a0002c0027 a0003c0024 a0003c0030	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 others(35): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0037 a0001c0002t0002 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0011 a0001c0006t0023 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0012t0001 a0001c0012t0002 a0001c0013t0012 a0001c0014t0002 a0001c0014t0018 a0002c0005t0003 a0002c0005t0007 a0002c0015t0003 a0002c0027t0003 a0003c0024t0010 a0003c0030t0011	a0001c0001t0002g0178 a0001c0001t0010g0185 a0001c0001t0017g0177 others(70): Show a0001c0001t0002g0178 a0001c0001t0010g0185 a0001c0001t0017g0177 a0001c0001t0022g0239 a0001c0001t0037g0259 a0001c0002t0002g0105 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0015g0221 a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0016 a0001c0006t0002g0031 a0001c0006t0006g0038 a0001c0006t0008g0020 a0001c0006t0011g0027 a0001c0006t0023g0030 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0004g0240 a0001c0007t0004g0241 a0001c0007t0005g0229 a0001c0007t0005g0233 a0001c0007t0005g0234 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0007t0005g0254 a0001c0008t0005g0191 a0001c0008t0005g0192 a0001c0008t0005g0203 a0001c0008t0005g0226 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145 a0001c0012t0001g0080 a0001c0012t0001g0097 a0001c0012t0001g0124 a0001c0012t0002g0079 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0002g0011 a0001c0014t0018g0049 a0002c0005t0003g0055 a0002c0005t0007g0005 a0002c0005t0007g0261 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0027t0003g0113 a0003c0024t0010g0151 a0003c0030t0011g0140	77	266	0.2895	-174	c.460 others(19): Show c.460-18545_460-18372del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BMPR1A_chr10_86751619_86932969	86754605	GCTCAGCA others(167): Show GCTCAGCATACGTCAATGAGAGCTTTGACCAATCAATGTGAATCTCCTTA AGCAAAAGGCCCATCTTTTCCTTTAGAACTAAAGCTGGGGCTGGGCGCAG TGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATC ACGAGGTCAGGAGATCGAGAACACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0175 a0002c0001t0002g0175	1	278	0.0036	-174	c.-25 others(11): Show c.-2581_-2408del	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		2013		chr10	TogoVar
BRSK2_chr11_1384934_1467689	1435206	AGAGGAGG others(167): Show AGAGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGG GTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGC CGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGG AGGGGTGCCGGTGGGGGTCTCGGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18970.hp2 NA18983.hp2 HG00423.hp1 NA18970.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0114 a0001c0003t0001g0134 a0001c0003t0001g0070 a0001c0003t0001g0114 a0001c0003t0001g0134	3	360	0.0083	-174	c.92- others(13): Show c.92-808_92-635del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	AGCGGAGG others(167): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01993.hp2 HG02976.hp1 others(1): Show HG00438.hp2 HG01993.hp2 HG02976.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 a0001c0001t0001 a0001c0001t0004 a0001c0001t0045	a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0004g0180 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0004g0180 a0001c0001t0045g0040	4	360	0.0111	-174	c.92- others(13): Show c.92-619_92-446del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C7orf50_chr7_992006_1143247	1039061	GGGGGTCA others(167): Show GGGGGTCAGCCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGC CAGCTGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	326	0.0031	-174	c.130 others(19): Show c.130-29092_130-28919del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CFAP74_chr1_1916957_2008786	1978993	GAGGCTGC others(167): Show GAGGCTGCACAGAACACGTGTGTCGTGCTGAGCTGGGCGTGGGAAGGCGT CATGTGACGAGGCTGCACAGAACATGCGTGTGGTACTGAGCTGGGCGTGG GAAGGTGTCACGTGACAAGGCTGCACAGAACATGTGTGTGGTACTGAGCT GGGCGTGGGAAGGCATCATGTGACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(73): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18966.hp2 NA18973.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19064.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0011 a0015 a0016 a0017 a0020 a0024 a0025 a0026 a0030 a0031 a0032 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0063 a0064	a0001c0006 a0002c0004 a0002c0047 others(27): Show a0001c0006 a0002c0004 a0002c0047 a0003c0003 a0005c0016 a0006c0019 a0008c0073 a0010c0067 a0010c0069 a0011c0010 a0015c0017 a0016c0061 a0017c0030 a0020c0028 a0024c0072 a0025c0031 a0026c0063 a0026c0066 a0030c0043 a0031c0042 a0032c0041 a0048c0058 a0049c0068 a0050c0070 a0051c0071 a0052c0062 a0053c0064 a0054c0065 a0063c0040 a0064c0060	a0001c0006t0001 a0002c0004t0002 a0002c0047t0009 others(29): Show a0001c0006t0001 a0002c0004t0002 a0002c0047t0009 a0003c0003t0001 a0003c0003t0003 a0005c0016t0001 a0006c0019t0001 a0008c0073t0001 a0010c0067t0001 a0010c0069t0001 a0011c0010t0001 a0011c0010t0008 a0015c0017t0002 a0016c0061t0002 a0017c0030t0001 a0020c0028t0002 a0024c0072t0001 a0025c0031t0001 a0026c0063t0001 a0026c0066t0001 a0030c0043t0002 a0031c0042t0001 a0032c0041t0001 a0048c0058t0001 a0049c0068t0001 a0050c0070t0001 a0051c0071t0001 a0052c0062t0001 a0053c0064t0001 a0054c0065t0001 a0063c0040t0001 a0064c0060t0001	a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0080 others(73): Show a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0080 a0001c0006t0001g0094 a0001c0006t0001g0115 a0001c0006t0001g0160 a0001c0006t0001g0188 a0001c0006t0001g0243 a0001c0006t0001g0250 a0002c0004t0002g0058 a0002c0004t0002g0079 a0002c0004t0002g0146 a0002c0004t0002g0227 a0002c0004t0002g0245 a0002c0004t0002g0258 a0002c0004t0002g0260 a0002c0004t0002g0266 a0002c0047t0009g0271 a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0116 a0003c0003t0001g0166 a0003c0003t0001g0190 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0199 a0003c0003t0001g0203 a0003c0003t0001g0210 a0003c0003t0001g0221 a0003c0003t0001g0235 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0003g0053 a0005c0016t0001g0006 a0005c0016t0001g0155 a0005c0016t0001g0215 a0005c0016t0001g0233 a0006c0019t0001g0111 a0006c0019t0001g0122 a0006c0019t0001g0125 a0008c0073t0001g0242 a0010c0067t0001g0259 a0010c0069t0001g0071 a0011c0010t0001g0014 a0011c0010t0001g0222 a0011c0010t0001g0236 a0011c0010t0001g0262 a0011c0010t0008g0015 a0015c0017t0002g0026 a0015c0017t0002g0027 a0015c0017t0002g0073 a0015c0017t0002g0226 a0016c0061t0002g0198 a0017c0030t0001g0045 a0017c0030t0001g0154 a0020c0028t0002g0056 a0020c0028t0002g0249 a0024c0072t0001g0062 a0025c0031t0001g0005 a0026c0063t0001g0002 a0026c0066t0001g0219 a0030c0043t0002g0275 a0031c0042t0001g0272 a0032c0041t0001g0139 a0048c0058t0001g0223 a0049c0068t0001g0214 a0050c0070t0001g0093 a0051c0071t0001g0077 a0052c0062t0001g0246 a0053c0064t0001g0055 a0054c0065t0001g0253 a0063c0040t0001g0134 a0064c0060t0001g0021	76	278	0.2734	-174	c.501 others(17): Show c.501-4969_501-4796del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140427036	CATGGTGG others(167): Show CATGGTGGTGCATGCCTGCAATCCCAGCTACTTGGGAGGCTGATGCAGGA GAATCACTTGAACCTGGGAAGTGGAGGTTGCAGTTAGCCAGTAGTGCGCC ACTGCACTCCTGCCTGGGCGACAGAGTGAGACTGTCTCAAAAAAAAAAAA TATATATATATATATATATGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG03486.hp1 others(1): Show HG02280.hp2 HG03098.hp1 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0025 a0001c0009t0010 others(1): Show a0001c0001t0001 a0001c0001t0025 a0001c0009t0010 a0001c0009t0018	a0001c0001t0001g0045 a0001c0001t0025g0004 a0001c0009t0010g0110 others(1): Show a0001c0001t0001g0045 a0001c0001t0025g0004 a0001c0009t0010g0110 a0001c0009t0018g0018	4	110	0.0364	-174	c.787 others(17): Show c.787+5765_787+5938del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNN2_chr19_1021608_1044065	1033953	GGGGAGCG others(167): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02818.hp1 others(1): Show HG01109.hp2 HG01891.hp1 HG02818.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0086 a0001c0001t0006g0090 others(1): Show a0001c0001t0006g0009 a0001c0001t0006g0086 a0001c0001t0006g0090 a0001c0001t0006g0175	4	390	0.0103	-174	c.390 others(17): Show c.390+1275_390+1448del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034426	CACGGTGT others(167): Show CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACGGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	390	0.0026	-174	c.391 others(17): Show c.391-1685_391-1512del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034445	GGGGAGCG others(167): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	390	0.0026	-174	c.391 others(17): Show c.391-1682_391-1509del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034448	GAGCGTGG others(167): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGT GGGACGGTGTCTGGTGTAGACCGGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0169 a0001c0003t0010g0169	1	390	0.0026	-174	c.391 others(17): Show c.391-1667_391-1494del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034742	CGGTGTCT others(167): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGT GGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA20905.hp1 HG02056.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0005 a0001c0001t0002 a0001c0014t0005	a0001c0001t0002g0096 a0001c0014t0005g0072 a0001c0001t0002g0096 a0001c0014t0005g0072	2	390	0.0051	-174	c.391 others(17): Show c.391-1387_391-1214del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CNN2_chr19_1021608_1044065	1034988	CGGTGTCT others(167): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTATACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACGGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18972.hp1 HG02129.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0107 a0001c0003t0003g0104 a0001c0001t0002g0107 a0001c0003t0003g0104	2	390	0.0051	-174	c.391 others(16): Show c.391-1141_391-968del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
COL18A1_chr21_45400165_45518720	45437460	ACACACAG others(167): Show ACACACAGGCACTCTCCTGCACACACTCACACTCACACACAGGCACTCTC CTGCACACACACACTCAGACACACAGGCACTCTCCTGCACACACACACAC ACAGACACAGGCACTCTCCTGTACACACACACACTCACACACTCAGACAC ACAGGCACTCTCCTGCACACACACT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(30): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG01346.hp1 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02273.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA20129.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0002 a0001c0004 a0001c0005 others(6): Show a0001c0002 a0001c0004 a0001c0005 a0001c0035 a0001c0089 a0001c0090 a0001c0093 a0005c0036 a0010c0014	a0001c0002t0002 a0001c0004t0001 a0001c0005t0002 others(8): Show a0001c0002t0002 a0001c0004t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0035t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0005c0036t0001 a0010c0014t0001	a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0022 others(30): Show a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0022 a0001c0004t0001g0032 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0174 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0005t0002g0070 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0005c0036t0001g0245 a0005c0036t0001g0292 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279	33	292	0.1130	-174	c.107 others(19): Show c.107-30756_107-30583del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501867	GCTTCAAA others(167): Show GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGG TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCTCAGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03195.hp1 NA18969.hp2 HG01123.hp2 HG03195.hp1 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0001 a0001c0003t0003 a0001c0037t0001 a0001c0003t0001 a0001c0003t0003 a0001c0037t0001	a0001c0003t0001g0081 a0001c0003t0003g0264 a0001c0037t0001g0157 a0001c0003t0001g0081 a0001c0003t0003g0264 a0001c0037t0001g0157	3	292	0.0103	-174	c.268 others(19): Show c.2684-2141_2684-1968del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501894	AGAAGGAC others(167): Show AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCA GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCT CCGCAGCCGGTCACCTCCCTCTGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG01257.hp1 others(6): Show HG00099.hp2 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 NA20300.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0016c0042	a0001c0001t0001 a0001c0003t0001 a0001c0006t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0003 a0016c0042t0001	a0001c0001t0001g0266 a0001c0003t0001g0221 a0001c0006t0003g0177 others(6): Show a0001c0001t0001g0266 a0001c0003t0001g0221 a0001c0006t0003g0177 a0001c0006t0003g0180 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0259 a0001c0006t0003g0291 a0016c0042t0001g0118	9	292	0.0308	-174	c.268 others(19): Show c.2684-2064_2684-1891del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134539	GAGGGTGA others(167): Show GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTA GGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGG GTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGT CAGGTTTAGGGTGAGGGTCAGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0196 a0003c0007t0007g0196	1	372	0.0027	-174	c.50 others(11): Show c.5049_*5222del	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4739		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134539	GAGGGTGA others(167): Show GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTA GGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGG GTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGT CAGGTTTAGGGTGAGGGTCAGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0192 a0003c0008t0003g0192	1	364	0.0028	-174	c.19 others(11): Show c.1988_*2161del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1692		chr21	TogoVar
CYTH1_chr17_78669048_78787273	78760411	ATATATAT others(167): Show ATATATATATATATACACATACATATATATATGTATATATATATACATAC ATATATATATGTATATATATGTATGTATATATATATACATATATATGTAT ATATATGTATATATATATATACATACATATATATGTATATATATATGTAT ATATATATACACATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG03130.hp2 others(2): Show HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03654.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014	a0001c0001t0005g0030 a0001c0001t0005g0036 a0001c0001t0009g0047 others(2): Show a0001c0001t0005g0030 a0001c0001t0005g0036 a0001c0001t0009g0047 a0001c0001t0009g0051 a0001c0001t0014g0053	5	378	0.0132	-174	c.22+ others(17): Show c.22+21617_22+21790del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCLRE1C_chr10_14899613_14959096	14912807	TAATAGCT others(167): Show TAATAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTTGT GTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCTCTGACCACATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACTGTGCCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01123.hp2 others(12): Show HG00140.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp2 HG01884.hp2 HG01981.hp1 HG02273.hp1 HG02572.hp2 HG02723.hp1 HG02735.hp2 HG03225.hp2 HG03490.hp2 NA18612.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0034 a0001c0001t0036 a0002c0003t0074 a0002c0003t0075	a0001c0001t0001g0006 a0001c0001t0001g0298 a0001c0001t0001g0338 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0298 a0001c0001t0001g0338 a0001c0001t0001g0351 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0014g0301 a0001c0001t0034g0093 a0001c0001t0034g0095 a0001c0001t0036g0105 a0001c0001t0036g0192 a0002c0003t0074g0086 a0002c0003t0075g0047	15	392	0.0383	-174	c.115 others(19): Show c.1157-3651_1157-3478del	DCLRE1C	ENSG00000152457.19	transcript	ENST00000378278.7	protein_coding	13/13			chr10	TogoVar
DDX51_chr12_132131594_132149319	132148964	CCACACCC others(167): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-174	c.-48 others(11): Show c.-4842_-4669del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4646		chr12	TogoVar
DENND2A_chr7_140513420_140645813	140625220	CACAAAAA others(167): Show CACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCAAGCTACTC AGGAGGCTGAGGCAGGAGAGTCACTTGAGCCCGGGACACAGAGGCTGCAG TGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAACGATACT CCGTTTCAAGAAAGAAAAAAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02647.hp1 others(2): Show HG02280.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG06807.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0006 a0010c0037 a0001c0001 a0003c0006 a0010c0037	a0001c0001t0003 a0003c0006t0002 a0010c0037t0003 a0001c0001t0003 a0003c0006t0002 a0010c0037t0003	a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0213 others(2): Show a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0213 a0003c0006t0002g0030 a0010c0037t0003g0028	5	254	0.0197	-174	c.-24 others(21): Show c.-248+15110_-248+15283del	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	1/19			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775665	TCTCCTAC others(167): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACAGTACATGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 NA18906.hp1 HG02109.hp1 HG02280.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	3	420	0.0071	-174	c.363 others(17): Show c.363+1221_363+1394del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	367893	CCACAGCC others(167): Show CCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGGAAGCCCGCGGTTGCTC TCACTGCCGCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGGAAGCCCGC GGTTGCTCTCACTGCTGCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGG AAGCCCGCGGTTGCTCTCACTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18906.hp2 HG02602.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0001 a0001c0020t0008 a0001c0002t0001 a0001c0020t0008	a0001c0002t0001g0080 a0001c0020t0008g0074 a0001c0002t0001g0080 a0001c0020t0008g0074	2	88	0.0227	-174	c.213 others(19): Show c.2131+1427_2132-1483del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	18/36			chr10	TogoVar
DIP2C_chr10_269201_694668	367950	CGCACAGC others(167): Show CGCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGGAAGCCCGCGGTTGCT CTCACTGCTGCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGGAAGCCCG CGGTTGCTCTCACTGCTGCACAGCCCCAGGTGCCTCCGACGGGGGCCCGG GAAGCCCGCGGTTGCTCTCACTGCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp2 NA18906.hp1 others(1): Show HG01081.hp2 HG02922.hp2 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0007t0002 a0001c0002t0003 a0001c0007t0002	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0007t0002g0076 others(1): Show a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0007t0002g0076 a0001c0007t0002g0077	4	88	0.0455	-174	c.213 others(19): Show c.2131+1370_2132-1540del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	18/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1297730	GTGAACAG others(167): Show GTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGCAGGCGTGAACAG ACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	-174	c.106 others(19): Show c.106+38861_106+39034del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	748148	GGTGTGCA others(167): Show GGTGTGCAGTGTTGTCACACAGGGTTGGTGGGGTTTGCTGGTTTCAGTGT GTCCAGTTGGTGTGCAGTGGTGGCCCACGGTGTTGGTGGGGTTTGCTGGT TTGAGCGTGTCCGGCTGGTGTGCAGTGGTGGCCCACGGTGTTGGTGGGGT TTGCTGGTTTCAGCGTGTCCGGCTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp1 HG02083.hp2 others(3): Show HG01261.hp1 HG01981.hp1 HG02083.hp2 NA18993.hp1 NA19055.hp1 NA19081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0127 others(3): Show a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0149 a0003c0003t0003g0214	6	378	0.0159	-174	c.102 others(19): Show c.1025-6430_1025-6257del	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPH7_chr9_137549444_137583925	137565280	TCTGTCTG others(167): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	340	0.0029	-174	c.641 others(15): Show c.641-300_641-127del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565330	GGGGTGAC others(167): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCG	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02165.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	340	0.0088	-174	c.641 others(15): Show c.641-350_641-177del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567344	TGTCTGTG others(167): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	340	0.0029	-174	c.641 others(17): Show c.641-2364_641-2191del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137568087	GTCTGTGA others(167): Show GTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCG GGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGT CTGTGAGGAAGCTCCCCTGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01192.hp1 others(1): Show HG00642.hp2 HG01069.hp2 HG01192.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	4	340	0.0118	-174	c.641 others(17): Show c.641-3107_641-2934del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EML1_chr14_99788413_99947060	99928041	GTGATGGT others(167): Show GTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0285 a0001c0005t0004g0285	1	288	0.0035	-174	c.190 others(19): Show c.1909+7167_1909+7340del	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERC1_chr12_986223_1500931	1198876	TGACAAAC others(167): Show TGACAAACCACCGTCATGATCCAGTCACTTCCCACCAGGCCCCACCTCCA ACACTGGGGATCACAGTTCAACATGAGATTTGGGTGGGGACAAACCACCG TCATGACCCAGTCACTTCCCACCAGGCCCTACCTCCAACACTGGGGATCA CAGTTCAACATGAGATTTGGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG02896.hp1 others(1): Show HG02055.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 others(1): Show a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091	4	162	0.0247	-174	c.235 others(19): Show c.2351+8843_2351+9016del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914546	TTCCCTCC others(167): Show TTCCCTCCCCTTCCACCATCTCTGTCTCCGTCTCTCCCTCCCTTTCCACC ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTC CCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTC CCTCCCCTTCCACCATCTCTGTCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp1 NA18965.hp2 others(2): Show HG01109.hp2 HG02922.hp1 NA18965.hp2 NA19063.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0039 a0001c0002t0002g0100 a0001c0002t0002g0193 others(2): Show a0001c0002t0002g0039 a0001c0002t0002g0100 a0001c0002t0002g0193 a0001c0002t0002g0201 a0001c0002t0004g0209	5	330	0.0152	-174	c.-13 others(17): Show c.-13-1788_-13-1615del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FOXN3_chr14_89151177_89422233	89361607	CCACCACC others(167): Show CCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACC ACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTAC CACCTCCAGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCA CCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0098 a0001c0001t0081g0098	1	230	0.0044	-174	c.544 others(19): Show c.544-10973_544-10800del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362296	ACCACCAC others(167): Show ACCACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCAC CACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCT CCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCC AGCACCAGCTCCACCACCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	230	0.0044	-174	c.544 others(19): Show c.544-11662_544-11489del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FZR1_chr19_3501311_3543334	3529178	TTGGGAGA others(167): Show TTGGGAGAGCGGATGGGAGAGCGGATGAGAGAGTGGATGGTTGAGCGGAT GGGAGAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGTGGATGAGA GTGGTTGAGGAAGTGGATGGTTGAGTGGATGGGAGAGCGGATGGGAGAGT GGATGAGAGTGGTTGAGGGAGTGGA	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	314	0.0032	-174	c.654 others(17): Show c.654+1386_655-1419del	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GCNT3_chr15_59606783_59627723	59611008	TCCCCCTC others(167): Show TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCC CTCCCCTCGCCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCTCCTCCC CCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCC CCCTCCCCTTCTCCTCCCCTCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp2 others(73): Show HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02280.hp2 HG02572.hp2 HG02683.hp1 HG02738.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18939.hp2 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA20905.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0006c0009 others(1): Show a0001c0001 a0001c0002 a0006c0009 a0009c0010	a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 others(27): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0033 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0097 a0001c0002t0101 a0001c0002t0102 a0001c0002t0103 a0001c0002t0104 a0006c0009t0013 a0009c0010t0005	a0001c0001t0005g0002 a0001c0001t0013g0002 a0001c0001t0013g0020 others(44): Show a0001c0001t0005g0002 a0001c0001t0013g0002 a0001c0001t0013g0020 a0001c0001t0014g0020 a0001c0001t0035g0012 a0001c0001t0036g0002 a0001c0001t0037g0029 a0001c0001t0107g0047 a0001c0001t0108g0002 a0001c0001t0109g0116 a0001c0002t0005g0002 a0001c0002t0005g0007 a0001c0002t0005g0012 a0001c0002t0005g0030 a0001c0002t0008g0002 a0001c0002t0008g0010 a0001c0002t0008g0012 a0001c0002t0008g0027 a0001c0002t0008g0045 a0001c0002t0009g0002 a0001c0002t0009g0010 a0001c0002t0009g0049 a0001c0002t0009g0050 a0001c0002t0011g0002 a0001c0002t0011g0029 a0001c0002t0012g0002 a0001c0002t0012g0012 a0001c0002t0012g0044 a0001c0002t0019g0002 a0001c0002t0019g0007 a0001c0002t0020g0002 a0001c0002t0020g0010 a0001c0002t0024g0010 a0001c0002t0024g0043 a0001c0002t0033g0002 a0001c0002t0092g0115 a0001c0002t0093g0002 a0001c0002t0094g0027 a0001c0002t0095g0114 a0001c0002t0096g0002 a0001c0002t0097g0007 a0001c0002t0101g0007 a0001c0002t0102g0046 a0001c0002t0103g0048 a0001c0002t0104g0010 a0006c0009t0013g0002 a0009c0010t0005g0002	76	428	0.1776	-174	c.-12 others(11): Show c.-1223_-1050del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		774		chr15	TogoVar
GNG12_chr1_67696475_67838467	67709952	ATATATAT others(167): Show ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATAGTTATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA20129.hp1 HG02630.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0014 a0001c0001t0010g0013 a0001c0001t0010g0014	2	274	0.0073	-174	c.-26 others(17): Show c.-26-2414_-26-2241del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar

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Search Results (Total: 10000 hits)