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
TEAD1_chr11_12669421_12949737	12922185	TGGTTCTC others(270): Show TGGTTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTTGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00738.hp2 others(77): Show HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01168.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02040.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 NA18947.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA19030.hp2 NA19062.hp1 NA19077.hp1 NA19079.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0048 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0022 a0001c0002t0028 a0001c0002t0034 a0001c0002t0037 a0001c0002t0038 a0001c0002t0042 a0001c0002t0046 a0001c0003t0003	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0026 others(77): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0119 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0001t0002g0206 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0003g0126 a0001c0001t0003g0144 a0001c0001t0003g0169 a0001c0001t0003g0203 a0001c0001t0007g0006 a0001c0001t0007g0058 a0001c0001t0007g0130 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0194 a0001c0001t0010g0049 a0001c0001t0010g0100 a0001c0001t0010g0136 a0001c0001t0010g0164 a0001c0001t0011g0005 a0001c0001t0011g0011 a0001c0001t0011g0054 a0001c0001t0011g0191 a0001c0001t0013g0016 a0001c0001t0013g0018 a0001c0001t0013g0029 a0001c0001t0016g0010 a0001c0001t0016g0192 a0001c0001t0017g0162 a0001c0001t0017g0205 a0001c0001t0018g0044 a0001c0001t0022g0125 a0001c0001t0023g0057 a0001c0001t0023g0105 a0001c0001t0027g0022 a0001c0001t0030g0045 a0001c0001t0033g0183 a0001c0001t0035g0089 a0001c0001t0036g0056 a0001c0001t0043g0003 a0001c0001t0048g0128 a0001c0002t0002g0031 a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0181 a0001c0002t0003g0037 a0001c0002t0003g0077 a0001c0002t0003g0161 a0001c0002t0015g0174 a0001c0002t0016g0012 a0001c0002t0018g0167 a0001c0002t0022g0023 a0001c0002t0028g0166 a0001c0002t0034g0046 a0001c0002t0037g0072 a0001c0002t0038g0048 a0001c0002t0042g0106 a0001c0002t0046g0196 a0001c0003t0003g0109	80	206	0.3884	-277	c.874 others(17): Show c.874-2716_874-2440del	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	10/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TPO_chr2_1408463_1548673	1526016	CTCCCCAA others(270): Show CTCCCCAAATCCGCCCACTGTGTGCAACCTCCCCAAATCCCCCCACTGTG CGCAACCTCCCCAAATCCTCCCACTGTGCGCAACCTCCCCAAATCCCCCC GACTCTGTGCAACCTCCCCCATCCCTCCATGTGCAAACCTCCAAATCCCC CCACTGTGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCTCCTCAA ATCCCCCCGATGTGTGCAACACCCCCAAGTCCCCCCCACTGTGAGCAACC ACCCCAGTCCCCCCACAGTGTGCAAACA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0013 a0002c0002 a0006c0013	a0002c0002t0009 a0006c0013t0012 a0002c0002t0009 a0006c0013t0012	a0002c0002t0009g0062 a0006c0013t0012g0067 a0002c0002t0009g0062 a0006c0013t0012g0067	2	130	0.0154	-277	c.261 others(19): Show c.2618+9035_2618+9311del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
VCX3A_chrX_6528618_6540118	6532748	CCTTCCTT others(270): Show CCTTCCTTCTTTCCTTTCTCCCTCCCCACACACCTCCTCTTCCTCCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCT CCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCTCACACACCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02895.hp1 others(1): Show HG02630.hp2 HG02723.hp2 HG02895.hp1 NA19043.hp1	a0005 a0012 a0005 a0012	a0005c0006 a0012c0012 a0005c0006 a0012c0012	a0005c0006t0001 a0012c0012t0001 a0005c0006t0001 a0012c0012t0001	a0005c0006t0001g0005 a0012c0012t0001g0023 a0005c0006t0001g0005 a0012c0012t0001g0023	4	74	0.0541	-277	c.72 others(9): Show c.720_*996del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		869		chrX	TogoVar
WDR7_chr18_56646359_57034792	57024554	AGCTATGA others(270): Show AGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 NA18906.hp1 HG02965.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0010 a0001c0004t0012 a0001c0005t0010 a0001c0003t0010 a0001c0004t0012 a0001c0005t0010	a0001c0003t0010g0134 a0001c0004t0012g0091 a0001c0005t0010g0128 a0001c0003t0010g0134 a0001c0004t0012g0091 a0001c0005t0010g0128	3	144	0.0208	-277	c.427 others(19): Show c.4270-2449_4270-2173del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
WDR7_chr18_56646359_57034792	57024622	GAGCTATG others(270): Show GAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCT ATTCTCAGGCAGGAATAGGGATATGTGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0003 a0001c0001t0010 a0001c0004t0003	a0001c0001t0010g0100 a0001c0001t0010g0104 a0001c0004t0003g0086 a0001c0001t0010g0100 a0001c0001t0010g0104 a0001c0004t0003g0086	3	144	0.0208	-277	c.427 others(19): Show c.4270-2380_4270-2104del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF511_chr10_133303914_133318161	133317260	ACCGCCCC others(270): Show ACCGCCCCCAGGACACAGAGATGGGAAGACCACACCCCCCCCCAGACACA CAGATGGAAAGGCCTCACCCCCCCAGGACACAGAGATGGAAAGACCACAC CCCCCCTCCCCCAGGACACAGAGATGGAAAGACCACACCCCCCCAGGACA CAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACAGAGATGGAAA GACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGACCACACCCCC CACACACACAGAGATGGAAAGACCACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	282	0.0036	-277	c.43 others(11): Show c.4395_*4671del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4100		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393976	GGGGGGAA others(270): Show GGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0097 a0001c0001t0023g0097	1	346	0.0029	-277	c.181 others(21): Show c.1811-13950_1811-13674del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288273	TCCCCCGA others(269): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0108 a0001c0016t0002g0108	1	295	0.0034	-276	c.50 others(11): Show c.5015_*5290del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4117		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1236344	CACTCCCC others(269): Show CACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACC CAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCT GTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTC TGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCG GTGTTTACCCTCTGTCTCCCGGTGTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0101 a0002c0002t0004g0101	1	106	0.0094	-276	c.136 others(19): Show c.1362-2775_1362-2500del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AP3D1_chr19_2095988_2156566	2128475	CGCTCCGA others(269): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02922.hp1 HG00597.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0009 a0001c0005 a0002c0009	a0001c0005t0002 a0002c0009t0002 a0001c0005t0002 a0002c0009t0002	a0001c0005t0002g0023 a0002c0009t0002g0277 a0001c0005t0002g0023 a0002c0009t0002g0277	2	406	0.0049	-276	c.806 others(15): Show c.806+339_806+614del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ASAP2_chr2_9201812_9410678	9406008	AGTCTTCC others(269): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02818.hp1 NA18964.hp1 others(1): Show HG02738.hp2 HG02818.hp1 NA18964.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0001 a0001c0003t0001 a0001c0003t0006 a0002c0001t0001	a0001c0003t0001g0029 a0001c0003t0006g0080 a0001c0003t0006g0104 others(1): Show a0001c0003t0001g0029 a0001c0003t0006g0080 a0001c0003t0006g0104 a0002c0001t0001g0053	4	210	0.0191	-276	c.26 others(11): Show c.2682_*2957del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		331		chr2	TogoVar
ASPHD2_chr22_26424260_26450015	26427360	AACAGGGA others(269): Show AACAGGGAGGAGGTGAGTTCTGGAACAGGGTGGAAGTGAGTTCTGGAACA GAGAGGGGGTGGGTCCTGGAACAGGGAGGAGGTGGGTTCTGGCACAGGGT GGAGGTGGGTCCTGGGACAGGGAGGAGGTGGGTCCTGGGACAGGGAGGAG GTGAGTTCTGGAACAGGGTGGAGGTGAGTTCTGGAACAGAGAGGGGGTGG GTCCTGGAACAGGGAGGAGGTGGGTTCTGGCACAGGGTGGAGGTGGGTCC TGGGACAGGGAGGAGGTGGGTCCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01167.hp2 others(23): Show HG00741.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0146 others(15): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0003g0015 a0001c0001t0003g0032 a0001c0001t0003g0064 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0013g0015 a0001c0001t0014g0016 a0001c0001t0018g0035 a0001c0001t0021g0150 a0001c0001t0023g0016 a0001c0001t0023g0164 a0001c0001t0024g0049 a0001c0001t0030g0016 a0001c0001t0031g0147	26	428	0.0608	-276	c.-23 others(11): Show c.-2350_-2075del	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding		1899		chr22	TogoVar
ATP10A_chr15_25673712_25868327	25758449	ACTCATTC others(269): Show ACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0005 a0010c0025t0001g0005	1	300	0.0033	-276	c.654 others(19): Show c.654+22294_655-22309del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
BRSK2_chr11_1384934_1467689	1394710	CCCTGGAG others(269): Show CCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATG GGCCCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAG ATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGCCCCTG GAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGCCA TGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGC CCCTGGAGATGGGCCATGGAGATGGGT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 NA20752.hp2 HG01123.hp2 HG01891.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0004g0190 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0004g0190	3	360	0.0083	-276	c.91+ others(15): Show c.91+4350_91+4625del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C7orf50_chr7_992006_1143247	1016146	GCAGCACA others(269): Show GCAGCACACGCCAGCACACAGCAGCACACAGCAGCACACGCCAGCACACA GCAGCGCACGCCAGCACACAGCAGCACACGCCAGCACACAGCAGCACACA GCAGCGCACGCCAGCACACAGCAGCGCACGCCAGCACACAGCAGTGCACG CCAGCACATAGCAGCACAGCAGCACACAGCAGCACAGCAGCACACAGCAG CGCACGCCAGCGCACAGCAGCACACGCCAGCACACAGCAGCACACGCCAG CACACAGCAGCACACAGCAGCGCACGC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	326	0.0031	-276	c.130 others(17): Show c.130-6279_130-6004del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CDK12_chr17_39456486_39539544	39498932	TTTCTTTC others(269): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01934.hp1 others(10): Show HG01109.hp2 HG01346.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02273.hp2 HG02523.hp1 HG02698.hp2 HG02922.hp2 NA18961.hp2 NA19001.hp2 NA19074.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0026 a0001c0001t0029 a0001c0001t0046	a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0168 others(10): Show a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0006g0191 a0001c0001t0013g0109 a0001c0001t0026g0163 a0001c0001t0029g0025 a0001c0001t0046g0180	13	260	0.0500	-276	c.242 others(19): Show c.2420-2315_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP92_chr3_128904873_128999076	128954916	GGGGGTGT others(269): Show GGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGCGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp2 HG00738.hp2 HG02145.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0029 a0001c0001 a0018c0029	a0001c0001t0001 a0018c0029t0001 a0001c0001t0001 a0018c0029t0001	a0001c0001t0001g0202 a0018c0029t0001g0095 a0001c0001t0001g0202 a0018c0029t0001g0095	2	342	0.0059	-276	c.135 others(19): Show c.1354-9217_1354-8942del	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
DGKB_chr7_14140049_14907751	14211683	TTTTACTC others(269): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0145 a0001c0006t0004g0145	1	148	0.0068	-276	c.212 others(21): Show c.2123-33808_2123-33533del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212111	TTTTACTC others(269): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	148	0.0068	-276	c.212 others(21): Show c.2123-34236_2123-33961del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1404099	ATCCTCCT others(269): Show ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-276	c.107 others(19): Show c.107-97230_107-96955del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH1_chr8_659200_736224	659499	GGTGTGCA others(269): Show GGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTG TGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCA CTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGA GCATCCTGGGGAGGGGATGACCATCGAGATCTCCGGTGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02280.hp2 HG03098.hp1 others(1): Show HG01099.hp1 HG02280.hp2 HG03098.hp1 HG03490.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0002 a0002c0005t0001 a0002c0005t0002	a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237 others(1): Show a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0002g0284	4	378	0.0106	-276	c.48 others(11): Show c.4828_*5103del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4700		chr8	TogoVar
ERICH1_chr8_659200_736224	675322	TGAGGACA others(269): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp1 HG01952.hp2 others(8): Show HG00738.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02300.hp1 HG03239.hp2 HG04115.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(8): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0110	11	378	0.0291	-276	c.305 others(17): Show c.305-1551_305-1276del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC3_chr5_438176_472290	467880	ATGTCTGA others(269): Show ATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTAT CTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGA CATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATC CCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCT CAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGC CTGGAGGGCGCCCTCCTGATCCCCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01123.hp2 others(24): Show HG00639.hp2 HG01070.hp2 HG01123.hp2 HG01168.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0002t0008 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0008 a0001c0002t0028 a0001c0004t0002	a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0004g0004 others(10): Show a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0004g0004 a0001c0002t0008g0009 a0001c0002t0008g0023 a0001c0002t0008g0043 a0001c0002t0008g0100 a0001c0002t0008g0102 a0001c0002t0008g0103 a0001c0002t0028g0101 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0104	27	418	0.0646	-276	c.98 others(10): Show c.983_*1258del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		591		chr5	TogoVar
FANCA_chr16_89732549_89821647	89732723	GCCGTTTG others(269): Show GCCGTTTGCCCCTGACCCTGCTGTACCATGCCCTCGCCCTCTGCTGTGTT CACCCTGACCCTGCTGTACCCTGCGCCCTCACCCTCTGCTGTGTTCACCT GACCCTGCTGTGTCCTGCGCCCTTGCCCTCTGCTGTGCTCGCCCTGACCC TGCTGTACCCCGCTGTACCCTGCGCCCTCGCCCTCTGCTGTGTTCACCCC GACCCTGCTGTACCCTGCGCCCTCATCCTCTGCTGTGCCCTCCCCCTCTG CTGTGTTCGCCCTGACCCTGCTGTACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(60): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01358.hp2 HG01516.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18968.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19087.hp1 NA20805.hp1	a0003 a0004 a0005 others(12): Show a0003 a0004 a0005 a0008 a0009 a0010 a0014 a0016 a0020 a0024 a0025 a0029 a0034 a0036 a0038	a0003c0003 a0003c0022 a0004c0004 others(13): Show a0003c0003 a0003c0022 a0004c0004 a0005c0005 a0008c0008 a0009c0010 a0010c0011 a0014c0015 a0016c0019 a0020c0021 a0024c0040 a0025c0039 a0029c0028 a0034c0046 a0036c0045 a0038c0023	a0003c0003t0002 a0003c0022t0002 a0004c0004t0002 others(14): Show a0003c0003t0002 a0003c0022t0002 a0004c0004t0002 a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 a0009c0010t0002 a0010c0011t0002 a0014c0015t0002 a0016c0019t0001 a0020c0021t0002 a0024c0040t0001 a0025c0039t0001 a0029c0028t0001 a0034c0046t0001 a0036c0045t0001 a0038c0023t0002	a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0240 others(60): Show a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0240 a0003c0003t0002g0274 a0003c0003t0002g0275 a0003c0003t0002g0282 a0003c0003t0002g0283 a0003c0003t0002g0284 a0003c0003t0002g0285 a0003c0003t0002g0286 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0022t0002g0295 a0004c0004t0002g0264 a0004c0004t0002g0300 a0005c0005t0001g0036 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0005c0005t0001g0067 a0005c0005t0001g0068 a0005c0005t0001g0181 a0005c0005t0001g0182 a0005c0005t0001g0183 a0005c0005t0001g0186 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0192 a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0014g0196 a0008c0008t0001g0015 a0008c0008t0001g0016 a0008c0008t0001g0018 a0008c0008t0001g0019 a0008c0008t0001g0020 a0008c0008t0001g0021 a0008c0008t0001g0167 a0009c0010t0002g0287 a0009c0010t0002g0288 a0009c0010t0002g0289 a0009c0010t0002g0296 a0009c0010t0002g0298 a0009c0010t0002g0299 a0010c0011t0002g0005 a0010c0011t0002g0009 a0014c0015t0002g0008 a0014c0015t0002g0011 a0016c0019t0001g0108 a0016c0019t0001g0156 a0020c0021t0002g0012 a0024c0040t0001g0017 a0025c0039t0001g0184 a0029c0028t0001g0096 a0034c0046t0001g0094 a0036c0045t0001g0185 a0038c0023t0002g0297	63	334	0.1886	-276	c.56 others(11): Show c.5602_*5877del	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding		4825		chr16	TogoVar
FOXQ1_chr6_1307098_1319758	1319482	CCTGTAAT others(269): Show CCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTT AGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTA AAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCAC TTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTA GCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGC CGGGCAGCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	-276	c.55 others(11): Show c.5567_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4725		chr6	TogoVar
GRHL1_chr2_9946693_10007277	9998613	TATATATG others(269): Show TATATATGTACACATATACATATATATGTACACATATACATATACATATA TATGTACACATATATATACATATATATGTACACACATATATATACATATA TATGTACACACATATATACGTATATATGTACACACATATATACGTATATA TATGTACACACATATATACGTATATATATGTACACACATATATATACGTA TATATATGTACACATATATATATACGTATATATATGTACACATATATATA CGTATATATATGTACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02970.hp1 HG01884.hp2 HG02486.hp2 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0011 a0001c0001t0006 a0003c0003t0011	a0001c0001t0006g0048 a0003c0003t0011g0137 a0003c0003t0011g0138 a0001c0001t0006g0048 a0003c0003t0011g0137 a0003c0003t0011g0138	3	418	0.0072	-276	c.167 others(16): Show c.1678-345_1678-70del	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
IL1A_chr2_112768925_112789493	112776428	TCCCAAAA others(269): Show TCCCAAAAACCCACAACCATGACCCGCCCCCTCCTCTGAATGTCCTACCC AAAAACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAA ACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCC ACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAA CCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCAC GACCCGCCCCCTCCTCTGAATGTCCTA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02965.hp2 others(5): Show HG02572.hp2 HG02647.hp1 HG02965.hp2 HG02970.hp2 NA18612.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0005 a0001c0001t0003 a0001c0003t0005	a0001c0001t0003g0077 a0001c0003t0005g0011 a0001c0003t0005g0071 a0001c0001t0003g0077 a0001c0003t0005g0011 a0001c0003t0005g0071	8	358	0.0224	-276	c.615 others(17): Show c.615+1283_616-1162del	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL1A_chr2_112768925_112789493	112776447	TGACCCGC others(269): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGAC CCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGC CCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCC TCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCCTCCT CTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCCTCCTCTGA ATGTCCTACCCAAAAACCCACAACCAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	358	0.0028	-276	c.615 others(17): Show c.615+1264_616-1181del	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
INTS9_chr8_28762661_28894969	28881285	AGTCCGGG others(269): Show AGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG03139.hp1 others(5): Show HG02109.hp2 HG02896.hp1 HG03139.hp1 HG03540.hp1 NA18949.hp2 NA18970.hp2 NA18973.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0180 a0001c0001t0001g0284 a0001c0001t0001g0285 others(5): Show a0001c0001t0001g0180 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297	8	358	0.0224	-276	c.9+8 others(13): Show c.9+8313_9+8588del	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406008	AGTCTTCC others(269): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG02738.hp1 HG02818.hp1 others(2): Show HG01978.hp1 HG02738.hp1 HG02818.hp1 NA18939.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0088 a0001c0001t0138 others(2): Show a0001c0001t0045 a0001c0001t0088 a0001c0001t0138 a0001c0001t0150 a0001c0001t0207	a0001c0001t0045g0211 a0001c0001t0088g0034 a0001c0001t0138g0028 others(2): Show a0001c0001t0045g0211 a0001c0001t0088g0034 a0001c0001t0138g0028 a0001c0001t0150g0046 a0001c0001t0207g0099	5	276	0.0181	-276	c.55 others(9): Show c.550_*825del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	550		chr2	TogoVar
LEPR_chr1_65415668_65646559	65613470	GGGGCCGG others(269): Show GGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCATTGCAG TCCGCAGTCCGGCCTGGGCAACAGAGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(56): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02809.hp1 HG02818.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03654.hp1 HG03831.hp1 HG03927.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18946.hp2 NA18960.hp2 NA18965.hp2 NA18972.hp2 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp1 NA19066.hp2 NA19068.hp2 NA19081.hp1 NA20805.hp1	a0002 a0003 a0012 others(1): Show a0002 a0003 a0012 a0013	a0002c0002 a0003c0006 a0012c0026 others(1): Show a0002c0002 a0003c0006 a0012c0026 a0013c0015	a0002c0002t0001 a0002c0002t0005 a0002c0002t0020 others(9): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0020 a0002c0002t0036 a0002c0002t0037 a0002c0002t0045 a0002c0002t0046 a0003c0006t0001 a0003c0006t0005 a0003c0006t0048 a0012c0026t0001 a0013c0015t0001	a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 others(56): Show a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0091 a0002c0002t0001g0104 a0002c0002t0005g0117 a0002c0002t0005g0124 a0002c0002t0005g0151 a0002c0002t0005g0154 a0002c0002t0005g0156 a0002c0002t0005g0157 a0002c0002t0005g0158 a0002c0002t0005g0159 a0002c0002t0005g0188 a0002c0002t0005g0207 a0002c0002t0020g0199 a0002c0002t0036g0026 a0002c0002t0037g0036 a0002c0002t0045g0181 a0002c0002t0046g0116 a0003c0006t0001g0022 a0003c0006t0001g0023 a0003c0006t0001g0024 a0003c0006t0001g0029 a0003c0006t0001g0084 a0003c0006t0005g0109 a0003c0006t0005g0130 a0003c0006t0005g0131 a0003c0006t0005g0132 a0003c0006t0005g0135 a0003c0006t0005g0162 a0003c0006t0005g0173 a0003c0006t0048g0134 a0012c0026t0001g0035 a0013c0015t0001g0087	59	216	0.2732	-276	c.199 others(19): Show c.1996-2536_1996-2261del	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF1_chr16_848634_975984	857915	CGTGGTGT others(269): Show CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGG TGTGCGTGGTGTCACGGGATGGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0246 a0001c0023t0001g0246	1	294	0.0034	-276	c.153 others(19): Show c.1530-3485_1530-3210del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	904659	TGGTGACC others(269): Show TGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTG ACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCT CTGCACCGCCCACAGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTCTGC ACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACT GCCTGTGGGGACGGCCGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCC CACAGGACGCCTGTCTCTGCTGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp2 HG02622.hp2 others(2): Show HG00738.hp2 HG02451.hp2 HG02622.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0020 a0001c0012 a0001c0020	a0001c0012t0001 a0001c0020t0001 a0001c0012t0001 a0001c0020t0001	a0001c0012t0001g0097 a0001c0012t0001g0098 a0001c0012t0001g0101 others(2): Show a0001c0012t0001g0097 a0001c0012t0001g0098 a0001c0012t0001g0101 a0001c0020t0001g0099 a0001c0020t0001g0100	5	294	0.0170	-276	c.663 others(17): Show c.663+5996_663+6271del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1903835	AATTGATC others(269): Show AATTGATCAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTATGGAAG ATGCTCTTGCGGAACTCATGATTGATCAAGCACTGTTCCAGGCAGCGAGG ACGCAGTGGCCTACGGAAGACACTCTTGCGGAACTCATGATTGATGAAGC ACTGTTCCAGGCAGCGAGGACGCAGTGGCCTATGGAAGACGTTCTTGTGG AACTCATGATTGATGAAGCACTGTTCCAGGCAGCGAGGATGCAGTGGCCT ACTGAAGACGCTCTTGCGGAACTCAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp1 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02615.hp1 HG02735.hp1 HG03239.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0009 others(1): Show a0002c0002 a0002c0005 a0002c0009 a0002c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(57): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0086 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0005t0001g0240 a0002c0009t0001g0096 a0002c0012t0001g0044	60	264	0.2273	-276	c.180 others(19): Show c.1808-5721_1808-5446del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1904935	CTCATGAT others(269): Show CTCATGATTGATGAAGCACTATTCCAGGCAGCAAGGACACAGTGGCCTAC GGAAGACGCTCTTGAGGAACTCATGATTGATAAAGCACTGTTCCAGGCAG CAAGGATGCAGTGGCCTATGGAAGACGTTCTTGTGGAACTCATGATTGAT GAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTACGGAAGACGCTCT CGCGGAATTCATGATTGATGAAGCACTGTTCCAGGCAGTGAGGACGCAGT GGCCTACGGAAGACGCTCTTGCGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03139.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03139.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0172 a0001c0003t0001g0133 a0001c0003t0001g0134 others(1): Show a0001c0001t0001g0172 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0010t0001g0084	4	264	0.0152	-276	c.180 others(19): Show c.1808-6821_1808-6546del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MCTP2_chr15_94226561_94488952	94244543	TACATATG others(269): Show TACATATGCACCTATGTTTATATACGTATATGTATACACATACATATGCA CCTATGTTTATATACGTATATGTATACACATACATATGCACCTATGTTTA TAAACGTATATGTATACACATACATATCCACCTATGTTTATATACGTATA TGTATACACATACATATGCACCTATGTTTATATTCGTATATGTATACACA TACATATGCACCTATGTTTATATTCGTATATGTATACACATACATATGCA CGTATGTTTATATACGTATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp1 NA19240.hp1 HG01081.hp2 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0018 a0001c0002t0001 a0001c0002t0018	a0001c0002t0001g0055 a0001c0002t0001g0125 a0001c0002t0018g0098 a0001c0002t0001g0055 a0001c0002t0001g0125 a0001c0002t0018g0098	3	276	0.0109	-276	c.-66 others(19): Show c.-66+12981_-66+13256del	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIER2_chr19_300573_349796	312594	GATGTCAG others(269): Show GATGTCAGAGCCACCTACACCTCTATCCAGGGACTGGCATCAGGGGCCGT CCACACCACCCTCCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGG GAGTGACATCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGGGCC ACCTACACCTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCACCCT CCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGGGAGTGACATCAG GGGCCGTCCACACCACCCTCCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	384	0.0026	-276	c.808 others(15): Show c.808-598_808-323del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	8/13			chr19	TogoVar
MYZAP_chr15_57586904_57690364	57687772	TATATAAT others(269): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATATAATATGTGT GTACAATATACACATATATAATATGTGTGTACAATATACACATATATAAT ATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACATA TATAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATACAC ATATATAAATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp1 NA18942.hp2 others(6): Show HG00423.hp2 HG00673.hp1 NA18942.hp2 NA18951.hp2 NA18952.hp1 NA18979.hp1 NA18995.hp2 NA19070.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0001c0003t0003 a0002c0002t0002 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002	a0001c0003t0002g0011 a0001c0003t0002g0088 a0001c0003t0003g0139 others(6): Show a0001c0003t0002g0011 a0001c0003t0002g0088 a0001c0003t0003g0139 a0002c0002t0002g0039 a0002c0002t0002g0044 a0002c0002t0002g0049 a0002c0002t0002g0087 a0002c0002t0002g0102 a0002c0002t0002g0103	9	352	0.0256	-276	c.32 others(11): Show c.3275_*3550del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2409		chr15	TogoVar
NCOR2_chr12_124319415_124572612	124467791	ATCACCCC others(269): Show ATCACCCCCATCATCCTCATCCTTATCACCCCCATCACCCTCATCCTCAT CACCCCTTCATCCTCATCCTCATCACCCCCATCACCCTCATCCTCATCAC CCTCTTCACCCTCATCCTCATCACCCTCATCCTTATCACCCCCCTCATCC TCATCACCCCCCTCATCCTCATCACCCCCTCATCCTCATCCTCATCACCC CATCATCCTCATCACCCTCATCCTCATCACGCCCATCACCCTCATCATCC TCATCACCCTCATCATCCTCATCCTCC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02976.hp1 HG03471.hp2 HG02486.hp1 HG02976.hp1 HG03471.hp2	a0002 a0015 a0002 a0015	a0002c0017 a0002c0124 a0015c0113 a0002c0017 a0002c0124 a0015c0113	a0002c0017t0070 a0002c0124t0015 a0015c0113t0001 a0002c0017t0070 a0002c0124t0015 a0015c0113t0001	a0002c0017t0070g0113 a0002c0124t0015g0134 a0015c0113t0001g0112 a0002c0017t0070g0113 a0002c0124t0015g0134 a0015c0113t0001g0112	3	234	0.0128	-276	c.592 others(17): Show c.592-1781_592-1506del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807331	ACCTTCCC others(269): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCC CCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-276	c.-19 others(11): Show c.-1946_-1671del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1861		chr2	TogoVar
NOL11_chr17_67712936_67749531	67731238	TTCGTGCA others(269): Show TTCGTGCACAAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGTTCTGTCGCCCAGGCGGGACTGCTGTGGCGCGATCTCCGCTC ACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCGCTGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(342): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0014 a0001c0016 a0001c0018 a0002c0003 a0003c0005 a0004c0006 a0004c0012 a0005c0007 a0006c0008 a0007c0019 a0008c0010 a0009c0015 a0010c0017 a0011c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0004t0001 a0001c0004t0004 a0001c0009t0001 a0001c0014t0001 a0001c0016t0001 a0001c0018t0001 a0002c0003t0001 a0002c0003t0009 a0003c0005t0003 a0004c0006t0005 a0004c0012t0005 a0005c0007t0001 a0006c0008t0001 a0007c0019t0001 a0008c0010t0001 a0009c0015t0001 a0010c0017t0001 a0011c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(211): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0228 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0007g0001 a0001c0001t0007g0003 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0214 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0008g0195 a0001c0002t0010g0050 a0001c0004t0001g0007 a0001c0004t0001g0027 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0141 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0229 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0234 a0001c0004t0004g0235 a0001c0004t0004g0236 a0001c0004t0004g0237 a0001c0004t0004g0238 a0001c0004t0004g0239 a0001c0004t0004g0240 a0001c0009t0001g0001 a0001c0009t0001g0017 a0001c0014t0001g0127 a0001c0016t0001g0004 a0001c0018t0001g0033 a0002c0003t0001g0002 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0198 a0002c0003t0001g0210 a0002c0003t0009g0020 a0003c0005t0003g0012 a0003c0005t0003g0025 a0003c0005t0003g0193 a0003c0005t0003g0194 a0003c0005t0003g0196 a0004c0006t0005g0018 a0004c0012t0005g0018 a0005c0007t0001g0003 a0006c0008t0001g0124 a0006c0008t0001g0125 a0007c0019t0001g0068 a0008c0010t0001g0181 a0009c0015t0001g0085 a0010c0017t0001g0106 a0011c0011t0001g0009	345	394	0.8756	-276	c.854 others(17): Show c.854-3107_854-2832del	NOL11	ENSG00000130935.10	transcript	ENST00000253247.9	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48669153	CCATCACC others(269): Show CCATCACCACCACCACCATCACCACCATGACCACCATCATCACCACCATC ACCATCACCACCACCACCACCACGACCATCATCACCACCACCACCATCAC CACCACCACGACCATCATCACCACCACCACCATCACCACCACCATCACCA CCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCAC CACCATCACCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	412	0.0024	-276	c.631 others(16): Show c.631+927_631+1202del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
PJA2_chr5_109329722_109414974	109342381	GGTCGGCC others(269): Show GGTCGGCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGGAGGTGGGGAT GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCTCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG01891.hp1 others(18): Show HG00741.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 a0001c0001t0024	a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0008 others(18): Show a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0022g0285 a0001c0001t0024g0343	21	346	0.0607	-276	c.200 others(19): Show c.2001+1533_2001+1808del	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PPP1R8_chr1_27825782_27856676	27854185	CGCCCGGC others(269): Show CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGCCCCACG CCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCAC CCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTG CCCGGCCAGTGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(53): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(45): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0119 a0001c0001t0006g0055 a0001c0001t0008g0063 a0001c0004t0001g0026	56	340	0.1647	-276	c.37 others(11): Show c.3740_*4015del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2510		chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122533	ATGGTGGT others(269): Show ATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGT TGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGG TTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT GTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp1 HG01099.hp2 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0051 a0001c0003t0003g0191 a0001c0003t0001g0051 a0001c0003t0003g0191	2	286	0.0070	-276	c.335 others(19): Show c.335-12725_335-12450del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSEN1_chr14_73131507_73228691	73183893	ACCTCCCG others(269): Show ACCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGAGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGCCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01975.hp1 others(9): Show HG00408.hp1 HG00544.hp2 HG01975.hp1 HG02056.hp1 NA18747.hp2 NA18947.hp2 NA18965.hp1 NA18974.hp2 NA18992.hp2 NA19063.hp1 NA19072.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0002c0005t0006 a0001c0001t0006 a0002c0005t0006	a0001c0001t0006g0128 a0001c0001t0006g0272 a0001c0001t0006g0273 others(9): Show a0001c0001t0006g0128 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 a0002c0005t0006g0274	12	378	0.0318	-276	c.481 others(17): Show c.481-2951_481-2676del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RABGAP1L_chr1_174154520_175000308	174349435	AGGCGGCT others(269): Show AGGCGGCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCCAGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGG CTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGTGGGGC TGACACCCCCACCTCCCTCCCGGACAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	272	0.0037	-276	c.146 others(21): Show c.1466-21527_1466-21252del	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAP1GAP2_chr17_2791438_3042741	2948446	GCAAGAGG others(269): Show GCAAGAGGGAAGGAACAGGTGGATGCCTGTCTGCAGGAGAAGCTGTGCCT GTGTGTAGAGCTGCTGTGGACCAGGGGGAGGCAGGGAGGGCACAGGGTGG TGATGAGATGGAGAGAAGGGGTCCTGGACTCGGGTGCAACAAGAGGGAAG GAAGAGGTGGCTGCCTGTCTGCAGGAGAAGCCGTGTCCATGTGTAGAGCT GCTGTGGACCAGGGGGAGGCAGGGAGGGCACAGGGTGGTGATGAGATGGA GAGAAGGGGTCCTGGACTCGGGTGCAA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0192 a0002c0003t0001g0192	1	218	0.0046	-276	c.166 others(17): Show c.166-9291_166-9016del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2948468	ATGCCTGT others(269): Show ATGCCTGTCTGCAGGAGAAGCTGTGCCTGTGTGTAGAGCTGCTGTGGACC AGGGGGAGGCAGGGAGGGCACAGGGTGGTGATGAGATGGAGAGAAGGGGT CCTGGACTCGGGTGCAACAAGAGGGAAGGAAGAGGTGGCTGCCTGTCTGC AGGAGAAGCCGTGTCCATGTGTAGAGCTGCTGTGGACCAGGGGGAGGCAG GGAGGGCACAGGGTGGTGATGAGATGGAGAGAAGGGGTCCTGGACTCGGG TGCAACAAGAGGGAAGGAACAGGTGGC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18990.hp1 HG01361.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0109 a0002c0003t0004 a0001c0002t0109 a0002c0003t0004	a0001c0002t0109g0130 a0002c0003t0004g0186 a0001c0002t0109g0130 a0002c0003t0004g0186	2	218	0.0092	-276	c.166 others(17): Show c.166-9210_166-8935del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RIMBP2_chr12_130391133_130721299	130646053	CCCTCACC others(269): Show CCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCC CTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCT CTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT CCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACC ACTTCCCTCTCCACCTGCCTCACCACCTCCCTCACCACCTGCCTCTCCAC CTCCCTCACCACTTCCCTCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0124 a0002c0016t0001g0124	1	180	0.0056	-276	c.-35 others(21): Show c.-351-17873_-351-17598del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar

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