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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
WBP1_chr2_74453438_74465881	74463928	GCTGGGAT others(289): Show GCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTCTTG AGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCT CGGCTCAGCGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCTTGGATCACAGGCATGCGCCACCACGCCCGGCTAAT TTTATATTTTCAGTAGAGACGGTGTTTCTCCATTTTGGTCAGGCTGGTCT GGAACTCCTGACCTCAGGTGATCCGCCAGCCTCGGCCTCCCAAAGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	346	0.0029	-296	c.32 others(11): Show c.3248_*3543del	WBP1	ENSG00000239779.7	transcript	ENST00000233615.7	protein_coding		3048		chr2	TogoVar
YBEY_chr21_46281342_46302751	46292778	ACAAGTTA others(289): Show ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	404	0.0025	-296	c.339 others(17): Show c.339+1390_339+1685del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294036	ACAAGTTA others(289): Show ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	404	0.0025	-296	c.340 others(17): Show c.340-2118_340-1823del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294340	AACTCTAG others(289): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	404	0.0025	-296	c.340 others(17): Show c.340-1766_340-1471del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFAT_chr8_134472788_134718031	134498596	GAGCCTGA others(289): Show GAGCCTGATTTGGTAGGGTCGGGGTGGAGCTGGGATGCCCCCGTTGCTGG TTACACACAGAGCCTGATTTGGTAGGGTTGGGGTGGAGCTGGGATGCCCC CGTTGCTGGTTACACACACAGCCTGATTTGGTAGGGTTGGGGTGGAGCTG GGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTCGGG GTGGAGCTGGGATGCCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGG TAGGGTCGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	274	0.0037	-296	c.349 others(21): Show c.3492+10727_3492+11022del	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZNF383_chr19_37213214_37253740	37244314	CTCAGGTG others(289): Show CTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCGATTGCACCTGGCTTTATTTTTTGTTGAGACGGAGTTTCGCTCTT GTTGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCGTCACAACCTTC GCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTTTTGAGTAGTTGGG ATTACAGGCATGTGCCACAACACCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp1 NA18960.hp2 NA18969.hp1 NA18943.hp1 NA18960.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0208 a0001c0001t0026g0209 a0001c0001t0026g0216 a0001c0001t0026g0208 a0001c0001t0026g0209 a0001c0001t0026g0216	3	404	0.0074	-296	c.66 others(9): Show c.665_*960del	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	6/6	665	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF516_chr18_76352682_76500242	76393689	TCAGGTGG others(289): Show TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0282 a0001c0001t0122g0282	1	346	0.0029	-296	c.181 others(21): Show c.1811-13682_1811-13387del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393922	GGTCAGGT others(289): Show GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0049 a0001c0001t0022g0049	1	346	0.0029	-296	c.181 others(21): Show c.1811-13915_1811-13620del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1289696	TCTCTGCT others(288): Show TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCG TGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0099 a0002c0006t0005g0099	1	295	0.0034	-295	c.35 others(11): Show c.3573_*3867del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2694		chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144531741	GGGCTAGA others(288): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0168 a0001c0001t0007g0168	1	246	0.0041	-295	c.298 others(17): Show c.2980+269_2980+563del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874734	GGAGGTTC others(288): Show GGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACACCAGGGCGT GTAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACA CCACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGC AGACACACCCGGGGCCGTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTG GGAGAGTGCAGACACACACGGGGCTGTGTCGGGGATAGAGGTTCTAAGAC AGTCTGGTGGGAGAGTGCAGACACACACCAGGGCGTGTAGGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01952.hp1 HG02922.hp2 HG01255.hp1 HG01952.hp1 HG02922.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0003 a0002c0025 a0012c0130 a0001c0003 a0002c0025 a0012c0130	a0001c0003t0026 a0002c0025t0059 a0012c0130t0073 a0001c0003t0026 a0002c0025t0059 a0012c0130t0073	a0001c0003t0026g0190 a0002c0025t0059g0105 a0012c0130t0073g0342 a0001c0003t0026g0190 a0002c0025t0059g0105 a0012c0130t0073g0342	3	363	0.0083	-295	c.680 others(17): Show c.680-1793_680-1499del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874778	GGGCGTGT others(288): Show GGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGA CACACACCACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGTGGGA GAGTGCAGACACACCCGGGGCCGTGTAGGGGGTACAGGTTCTAAGACAGT CTGGTGGGAGAGTGCAGACACACACGGGGCTGTGTCGGGGATAGAGGTTC TAAGACAGTCTGGTGGGAGAGTGCAGACACACACCAGGGCGTGTAGGGGG TAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACACCAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp2 HG03139.hp1 HG02258.hp1 HG02818.hp2 HG03139.hp1	a0001 a0024 a0001 a0024	a0001c0002 a0001c0012 a0024c0094 a0001c0002 a0001c0012 a0024c0094	a0001c0002t0026 a0001c0012t0074 a0024c0094t0016 a0001c0002t0026 a0001c0012t0074 a0024c0094t0016	a0001c0002t0026g0192 a0001c0012t0074g0191 a0024c0094t0016g0103 a0001c0002t0026g0192 a0001c0012t0074g0191 a0024c0094t0016g0103	3	363	0.0083	-295	c.680 others(17): Show c.680-1762_680-1468del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874899	CGTGTAGG others(288): Show CGTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACAC ACACGGGGCTGTGTCGGGGATAGAGGTTCTAAGACAGTCTGGTGGGAGAG TGCAGACACACACCAGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTG GAGGAACAGTGGAGACACACACCACGGCGTGTAGGGGGTAGAGGTTCTAA GACAGTCTGGTGGGAGAGTGCAGACACACCCGGGGCCGTGTAGGGGGTAC AGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18943.hp2 NA18966.hp2 others(2): Show NA18941.hp2 NA18943.hp2 NA18966.hp2 NA18974.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001	a0001c0001t0002g0271 a0001c0002t0001g0270 a0001c0002t0002g0002 others(2): Show a0001c0001t0002g0271 a0001c0002t0001g0270 a0001c0002t0002g0002 a0001c0002t0002g0269 a0001c0010t0001g0272	5	363	0.0138	-295	c.680 others(17): Show c.680-1667_680-1373del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874958	TGTGTCGG others(288): Show TGTGTCGGGGATAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACAC ACACCAGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAG TGGAGACACACACCACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTG GTGGGAGAGTGCAGACACACCCGGGGCCGTGTAGGGGGTACAGGTTCTAA GACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCTGTGTCGGGGATAG AGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0104 a0001c0004t0048g0104	1	363	0.0028	-295	c.680 others(17): Show c.680-1608_680-1314del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531741	GGGCTAGA others(288): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0046 a0001c0003t0004g0046	1	398	0.0025	-295	c.-31 others(11): Show c.-3120_-2826del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2631		chr8	TogoVar
CAMK2B_chr7_44212154_44330594	44227441	GTGGAAGA others(288): Show GTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGGGCAGGG GGTGGAGGACAGAGGAGGGTGTGGGGGACAGAGGGGGATATGGGGGACAG AGGGAGTGTAGGGGACAGAGGAGGGTCTGGGGGGCAGAGGGAGAGTGTGG GGGACAGGGGGTGTGGGGGACAGAGGGAGTGTGGGGGACAGAGGAGGGTC TGGAGGACAGAGGGAGAGTGTAGGGAACAGAGGGGGTGTGGGGGACAGAA AAGGGCGTGAAGGGACCAAGGTGGGTGTGGGGGACAGAGGGGTATA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG03098.hp2 others(6): Show HG02027.hp1 HG02027.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG04204.hp2 NA18966.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0003t0022 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0022 a0001c0004t0008 a0002c0005t0004 a0002c0005t0010 a0002c0009t0004	a0001c0001t0002g0030 a0001c0001t0004g0148 a0001c0003t0022g0077 others(6): Show a0001c0001t0002g0030 a0001c0001t0004g0148 a0001c0003t0022g0077 a0001c0004t0008g0149 a0001c0004t0008g0164 a0002c0005t0004g0222 a0002c0005t0004g0223 a0002c0005t0010g0007 a0002c0009t0004g0163	9	242	0.0372	-295	c.146 others(18): Show c.1468+1060_1469-798del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC77_chr12_396644_447642	421752	TACACATA others(288): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTT CCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03017.hp1 HG03492.hp1 HG02738.hp2 HG03017.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0208 a0001c0001t0001g0378 a0001c0001t0001g0179 a0001c0001t0001g0208 a0001c0001t0001g0378	3	432	0.0069	-295	c.413 others(17): Show c.413+3122_413+3416del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDH13_chr16_82621969_83805640	82970370	ACAGTGCA others(288): Show ACAGTGCATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCACTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CAATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00738.hp1 others(7): Show HG00438.hp2 HG00597.hp2 HG00738.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG02922.hp2 HG03491.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0002c0012	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0003 a0001c0004t0016 a0001c0010t0003 a0002c0012t0002	a0001c0001t0001g0024 a0001c0001t0005g0054 a0001c0002t0001g0025 others(7): Show a0001c0001t0001g0024 a0001c0001t0005g0054 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0002g0043 a0001c0002t0005g0082 a0001c0004t0003g0020 a0001c0004t0016g0056 a0001c0010t0003g0062 a0002c0012t0002g0019	10	110	0.0909	-295	c.158 others(19): Show c.158-61625_158-61331del	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDK12_chr17_39456486_39539544	39498913	TTCTTTCT others(288): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0111 a0001c0001t0052g0111	1	260	0.0039	-295	c.242 others(19): Show c.2420-2335_2420-2041del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CLIC4_chr1_24740447_24849321	24799916	GGGGGGGG others(288): Show GGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCC CGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00597.hp2 others(61): Show HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02970.hp2 HG03017.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18944.hp2 NA18947.hp1 NA18954.hp2 NA18960.hp2 NA18968.hp1 NA18975.hp1 NA18979.hp2 NA18987.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19087.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(61): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0256 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0109 a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0334 a0001c0001t0009g0266 a0001c0001t0011g0307 a0001c0001t0011g0309 a0001c0001t0013g0298 a0001c0001t0014g0004 a0001c0001t0015g0110 a0001c0001t0016g0087 a0001c0001t0018g0288	64	344	0.1861	-295	c.182 others(17): Show c.182+2074_182+2368del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP2_chr7_74284407_74410935	74369860	AAAAAAAA others(288): Show AAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGCTCCAAA CCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAT TAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCGGAAGGCTG AGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGAGCCAGGCT CCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTGCCTC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02109.hp1 NA19056.hp1 HG01071.hp1 HG02109.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0150 a0001c0002t0001g0226 a0001c0009t0001g0126 a0001c0001t0001g0150 a0001c0002t0001g0226 a0001c0009t0001g0126	3	278	0.0108	-295	c.138 others(19): Show c.1381-3053_1381-2759del	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CROCC2_chr2_240901336_240998311	240924259	CCACACTA others(288): Show CCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCACACTAACCCGGTCCCCACACTGACCCAGTCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACC CAGCCCCCAACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTA TCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02922.hp1 others(1): Show HG01884.hp2 HG02630.hp2 HG02922.hp1 NA18906.hp2	a0018 a0052 a0018 a0052	a0018c0017 a0052c0072 a0018c0017 a0052c0072	a0018c0017t0002 a0052c0072t0002 a0018c0017t0002 a0052c0072t0002	a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 others(1): Show a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 a0052c0072t0002g0239	4	350	0.0114	-295	c.489 others(17): Show c.489-1464_489-1170del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
DPP8_chr15_65437467_65522689	65495415	TCAACATG others(288): Show TCAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAACCAGGT GTGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGGATGAG AATCACTTGAACGCAGGAGGCAGAGGTTACAGTGAGCTGAGATAGCCCAC TGCACTCCAGCCTGGGCAATAGAGCGAGACTTTGTTACAAAAAACAAACA AACAGGCTGAGCACGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGTGGGTGTATCACGAGGTCAGAAGATTGAGAACACCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	336	0.0030	-295	c.715 others(17): Show c.715+2154_715+2448del	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
ENTPD8_chr9_137429364_137446357	137440614	CCCCCCAG others(288): Show CCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAG GACAGCCCCCCAGACCAGGACAGCCCCCCCCAGACCAGGACAGCCCCCCC AGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACACC CCCTCAGACAGAACAGTCCCCCAGACCAGGACAGCCCCCCCAGACCAGGA CAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCCCCAGAC CAGGACAGCCCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG02723.hp2 others(1): Show HG01123.hp1 HG02109.hp1 HG02723.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0001 a0001c0001t0001 a0001c0022t0001	a0001c0001t0001g0024 a0001c0022t0001g0159 a0001c0001t0001g0024 a0001c0022t0001g0159	4	392	0.0102	-295	c.-21 others(15): Show c.-21+377_-21+671del	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
FKBP15_chr9_113156006_113226277	113174804	TAAGAGCT others(288): Show TAAGAGCTAGGGAAATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCATCCTGGGCGACAGAGCGAGA CTCCGCCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(335): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0010 others(30): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0001c0031 a0001c0034 a0002c0003 a0002c0006 a0002c0019 a0002c0021 a0002c0022 a0002c0025 a0003c0004 a0003c0027 a0003c0028 a0003c0033 a0004c0005 a0005c0007 a0006c0008 a0007c0011 a0008c0009 a0010c0013 a0011c0023 a0011c0024 a0011c0035 a0012c0016 a0013c0015 a0014c0032 a0015c0029 a0016c0026 a0017c0020 a0018c0018 a0019c0017	a0001c0001t0004 a0001c0001t0043 a0001c0002t0003 others(57): Show a0001c0001t0004 a0001c0001t0043 a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0050 a0001c0010t0004 a0001c0014t0003 a0001c0014t0037 a0001c0031t0003 a0001c0034t0004 a0002c0003t0001 a0002c0003t0022 a0002c0003t0025 a0002c0006t0007 a0002c0006t0014 a0002c0006t0017 a0002c0019t0007 a0002c0021t0035 a0002c0022t0034 a0002c0025t0001 a0003c0004t0005 a0003c0004t0008 a0003c0027t0008 a0003c0028t0005 a0003c0033t0005 a0004c0005t0001 a0004c0005t0012 a0004c0005t0023 a0004c0005t0025 a0004c0005t0045 a0004c0005t0051 a0005c0007t0010 a0005c0007t0028 a0006c0008t0013 a0006c0008t0018 a0007c0011t0021 a0007c0011t0024 a0007c0011t0033 a0007c0011t0049 a0008c0009t0015 a0010c0013t0020 a0010c0013t0029 a0010c0013t0031 a0011c0023t0047 a0011c0024t0048 a0011c0035t0030 a0012c0016t0005 a0013c0015t0005 a0014c0032t0038 a0015c0029t0010 a0016c0026t0005 a0017c0020t0042 a0018c0018t0001 a0019c0017t0001	a0001c0001t0004g0001 a0001c0001t0004g0031 a0001c0001t0004g0292 others(296): Show a0001c0001t0004g0001 a0001c0001t0004g0031 a0001c0001t0004g0292 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0350 a0001c0001t0043g0064 a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0113 a0001c0002t0003g0120 a0001c0002t0003g0122 a0001c0002t0003g0127 a0001c0002t0003g0131 a0001c0002t0003g0133 a0001c0002t0003g0136 a0001c0002t0003g0138 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0155 a0001c0002t0003g0167 a0001c0002t0003g0170 a0001c0002t0003g0174 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0193 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0202 a0001c0002t0003g0217 a0001c0002t0003g0237 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0006g0002 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0012 a0001c0002t0006g0016 a0001c0002t0006g0039 a0001c0002t0006g0042 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0054 a0001c0002t0006g0058 a0001c0002t0006g0089 a0001c0002t0006g0090 a0001c0002t0006g0091 a0001c0002t0006g0157 a0001c0002t0006g0168 a0001c0002t0006g0269 a0001c0002t0016g0162 a0001c0002t0016g0163 a0001c0002t0016g0164 a0001c0002t0016g0207 a0001c0002t0032g0117 a0001c0002t0036g0173 a0001c0002t0039g0073 a0001c0002t0040g0221 a0001c0002t0041g0118 a0001c0002t0050g0303 a0001c0010t0004g0032 a0001c0010t0004g0328 a0001c0010t0004g0335 a0001c0010t0004g0338 a0001c0010t0004g0347 a0001c0014t0003g0135 a0001c0014t0003g0177 a0001c0014t0037g0137 a0001c0031t0003g0249 a0001c0034t0004g0342 a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0102 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0121 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0128 a0002c0003t0001g0132 a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0172 a0002c0003t0001g0182 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0222 a0002c0003t0001g0226 a0002c0003t0001g0232 a0002c0003t0001g0282 a0002c0003t0022g0224 a0002c0003t0022g0225 a0002c0003t0025g0344 a0002c0006t0007g0026 a0002c0006t0007g0206 a0002c0006t0007g0223 a0002c0006t0007g0267 a0002c0006t0007g0268 a0002c0006t0007g0270 a0002c0006t0007g0271 a0002c0006t0007g0272 a0002c0006t0007g0273 a0002c0006t0007g0274 a0002c0006t0007g0275 a0002c0006t0007g0276 a0002c0006t0007g0277 a0002c0006t0007g0278 a0002c0006t0007g0280 a0002c0006t0007g0281 a0002c0006t0007g0284 a0002c0006t0007g0285 a0002c0006t0007g0287 a0002c0006t0007g0288 a0002c0006t0007g0289 a0002c0006t0014g0029 a0002c0006t0014g0306 a0002c0006t0014g0307 a0002c0006t0014g0308 a0002c0006t0014g0320 a0002c0006t0014g0321 a0002c0006t0017g0027 a0002c0006t0017g0286 a0002c0019t0007g0200 a0002c0021t0035g0279 a0002c0022t0034g0092 a0002c0025t0001g0283 a0003c0004t0005g0004 a0003c0004t0005g0296 a0003c0004t0005g0297 a0003c0004t0005g0298 a0003c0004t0005g0299 a0003c0004t0005g0300 a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0322 a0003c0004t0005g0323 a0003c0004t0008g0023 a0003c0004t0008g0046 a0003c0004t0008g0055 a0003c0004t0008g0059 a0003c0004t0008g0081 a0003c0004t0008g0085 a0003c0004t0008g0134 a0003c0004t0008g0139 a0003c0004t0008g0156 a0003c0004t0008g0158 a0003c0004t0008g0175 a0003c0004t0008g0176 a0003c0004t0008g0180 a0003c0004t0008g0191 a0003c0004t0008g0201 a0003c0004t0008g0215 a0003c0004t0008g0220 a0003c0004t0008g0290 a0003c0027t0008g0129 a0003c0028t0005g0316 a0003c0033t0005g0313 a0004c0005t0001g0017 a0004c0005t0001g0021 a0004c0005t0001g0041 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0047 a0004c0005t0001g0048 a0004c0005t0001g0061 a0004c0005t0001g0074 a0004c0005t0001g0088 a0004c0005t0001g0146 a0004c0005t0001g0150 a0004c0005t0001g0151 a0004c0005t0001g0181 a0004c0005t0001g0189 a0004c0005t0001g0190 a0004c0005t0001g0192 a0004c0005t0001g0211 a0004c0005t0001g0233 a0004c0005t0001g0235 a0004c0005t0001g0266 a0004c0005t0001g0291 a0004c0005t0012g0056 a0004c0005t0012g0057 a0004c0005t0012g0097 a0004c0005t0012g0098 a0004c0005t0012g0099 a0004c0005t0012g0100 a0004c0005t0012g0101 a0004c0005t0012g0112 a0004c0005t0012g0140 a0004c0005t0012g0171 a0004c0005t0023g0264 a0004c0005t0023g0265 a0004c0005t0025g0293 a0004c0005t0045g0257 a0004c0005t0051g0364 a0005c0007t0010g0007 a0005c0007t0010g0065 a0005c0007t0010g0076 a0005c0007t0010g0077 a0005c0007t0010g0078 a0005c0007t0010g0082 a0005c0007t0010g0083 a0005c0007t0010g0084 a0005c0007t0010g0093 a0005c0007t0010g0094 a0005c0007t0028g0080 a0006c0008t0013g0009 a0006c0008t0013g0040 a0006c0008t0013g0062 a0006c0008t0013g0068 a0006c0008t0013g0106 a0006c0008t0013g0166 a0006c0008t0018g0165 a0006c0008t0018g0219 a0006c0008t0018g0255 a0007c0011t0021g0095 a0007c0011t0021g0096 a0007c0011t0024g0361 a0007c0011t0024g0362 a0007c0011t0033g0063 a0007c0011t0049g0349 a0008c0009t0015g0008 a0008c0009t0015g0066 a0008c0009t0015g0107 a0008c0009t0015g0108 a0008c0009t0015g0109 a0010c0013t0020g0037 a0010c0013t0020g0038 a0010c0013t0029g0036 a0010c0013t0031g0075 a0011c0023t0047g0294 a0011c0024t0048g0295 a0011c0035t0030g0245 a0012c0016t0005g0030 a0013c0015t0005g0028 a0014c0032t0038g0119 a0015c0029t0010g0079 a0016c0026t0005g0319 a0017c0020t0042g0045 a0018c0018t0001g0229 a0019c0017t0001g0244	338	410	0.8244	-295	c.222 others(17): Show c.2224-516_2224-222del	FKBP15	ENSG00000119321.10	transcript	ENST00000238256.8	protein_coding	21/27			chr9	TogoVar
GRAMD1C_chr3_113833788_113952174	113941870	CGGCCTCC others(288): Show CGGCCTCCCAAAGTGTTGGGATTAAAGGCATGAGCCACCGTGCCCGGCCA TCTTTTTTTTTTTTGAGACAAGAGTCTTACTCTGTCACCCAACTGGAGTG CAGTGGCATGAACACGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCA AACCTCCCACCTCACCCTCCCGTAGCTGGAACTTCAGGTGTGAGCCACCA TGCCCAGCTAATTTTTGCAGTTTTTGTAGAGACAAGGTTTTGCCATGTTG CCCAGGCTGGTCTCAAACTCCTGGGCTCAGCAGATCTACCTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG03098.hp2 others(5): Show HG01891.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0124 a0001c0001t0006g0125 others(5): Show a0001c0001t0006g0106 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0151 a0001c0001t0006g0254 a0001c0001t0006g0310	8	324	0.0247	-295	c.190 others(19): Show c.1908+1548_1908+1842del	GRAMD1C	ENSG00000178075.20	transcript	ENST00000358160.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
HEATR6_chr17_60036008_60083921	60042542	CGTCCTGT others(288): Show CGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGC TGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGT CAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCG TCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTG TGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCA GCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0171 a0001c0001t0037g0171	1	250	0.0040	-295	c.72 others(10): Show c.726_*1020del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	726		chr17	TogoVar
HSD17B14_chr19_48808018_48841491	48834455	GGCCTGGA others(288): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0245 a0004c0005t0001g0246 a0004c0005t0001g0245 a0004c0005t0001g0246	2	394	0.0051	-295	c.128 others(14): Show c.128-392_128-98del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834567	CCTGGACT others(288): Show CCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	394	0.0025	-295	c.128 others(15): Show c.128-504_128-210del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFNGR2_chr21_33398413_33442516	33440340	CACTTTGG others(288): Show CACTTTGGGAGGCTGAGGTGGGCGGATCATTTGAGGCCAGGAGTTTGAGA CCAGCCTGACCAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAAT TAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTG AGCGAAGGGAATTGCTTGAACCTGGGATGCAGAGGTTGCAGTGAGCAGAG ATCGTGCCACTGCATGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAATA ATAATAAAATAGGCCGGGTGCGGGGGCTCACGCTTGTAATCCCAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	386	0.0026	-295	c.33 others(11): Show c.3379_*3673del	IFNGR2	ENSG00000159128.16	transcript	ENST00000290219.11	protein_coding		2825		chr21	TogoVar
KIAA1671_chr22_24947716_25202448	25000197	TTTTTTTT others(288): Show TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp1 HG01192.hp2 others(13): Show HG00423.hp2 HG01192.hp1 HG01192.hp2 HG02055.hp2 HG02056.hp2 HG02165.hp1 HG02738.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp2 HG04115.hp1 HG04204.hp1 NA18948.hp1 NA18970.hp1 NA19000.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0010 a0001c0017 others(10): Show a0001c0002 a0001c0010 a0001c0017 a0001c0019 a0001c0020 a0001c0032 a0001c0037 a0001c0091 a0001c0099 a0002c0119 a0003c0008 a0004c0053 a0004c0057	a0001c0002t0003 a0001c0010t0008 a0001c0010t0009 others(11): Show a0001c0002t0003 a0001c0010t0008 a0001c0010t0009 a0001c0017t0017 a0001c0019t0002 a0001c0020t0002 a0001c0032t0002 a0001c0037t0003 a0001c0091t0001 a0001c0099t0002 a0002c0119t0001 a0003c0008t0001 a0004c0053t0003 a0004c0057t0001	a0001c0002t0003g0200 a0001c0010t0008g0172 a0001c0010t0009g0187 others(13): Show a0001c0002t0003g0200 a0001c0010t0008g0172 a0001c0010t0009g0187 a0001c0010t0009g0188 a0001c0017t0017g0045 a0001c0019t0002g0064 a0001c0020t0002g0191 a0001c0032t0002g0052 a0001c0037t0003g0217 a0001c0091t0001g0248 a0001c0099t0002g0186 a0002c0119t0001g0244 a0003c0008t0001g0207 a0003c0008t0001g0208 a0004c0053t0003g0139 a0004c0057t0001g0239	16	254	0.0630	-295	c.-20 others(21): Show c.-207-25421_-207-25127del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTA1_chr14_105414827_105475729	105459019	CGCTGCCC others(288): Show CGCTGCCCGTGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGG GGGAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGCACCTGGGGAGCTGT GTGCCTGGGGGGAGTCCGCGCTGCCCGTGGCCCCTGGTCCCTGGTCCCTA GGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCATGGCCCCTGGTCCC TGGCGCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCATGGCC CCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0044 a0001c0017t0001g0044	1	304	0.0033	-295	c.653 others(15): Show c.653+733_654-959del	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MUC5B_chr11_1218066_1267172	1255550	GCCTGTGC others(288): Show GCCTGTGCGGTGAGTGGGGGCGGCCCCGGGCCCCCCAGACCCCTCGGCCT CTCTGAGTGTCCTGTGCGGTGAGTGGGGGCGGCCCCGGGCCCCCCAGACC CCTCGGCCTCTCTGAGTGTCCTGTGCGGTGAGTGGGGGCGGCCCCGGGCC CCCCAGACCCCTCGGCCTCTCTGAGTGTCCTGTGCGGTGAGTGGGGGCGG CCCCGGGCCCCCCAGACCCCTCGGCCTCTCTGAGTGTCCTGTGCGGTGAG TGGGGGCGGCCCCGGGCCCCCCAGACCCCTCGGCCTCTCTGAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02976.hp1 HG01192.hp2 HG02976.hp1	a0094 a0095 a0094 a0095	a0094c0097 a0095c0098 a0094c0097 a0095c0098	a0094c0097t0001 a0095c0098t0001 a0094c0097t0001 a0095c0098t0001	a0094c0097t0001g0101 a0095c0098t0001g0073 a0094c0097t0001g0101 a0095c0098t0001g0073	2	350	0.0057	-295	c.160 others(18): Show c.16066+209_16067-95del	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	37/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYT1_chr20_64159452_64247253	64190416	GTAATCCC others(288): Show GTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAA GAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAA ACACAAAAATTAGCCGGGCATGGTGGCATGCGCCTGTAATCCCAGCTATT TGGGGGAGGATCCCAGCTAAGGTGGGAGGATCACTTGAGCCTGGGAAGTC AAGGCTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGCAG ATCTTATCTCAGAAGTAAAGGGACTAGGAATGGTGGCTTTTATCTC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0120 a0001c0002t0006g0119 a0001c0002t0002g0120 a0001c0002t0006g0119	2	223	0.0090	-295	c.-1+ others(13): Show c.-1+404_-1+698del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSCP1_chr1_36412906_36455451	36426768	CGATCTCG others(288): Show CGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCT ACCTCAGCCTCCTGAATAGCCGGGACTACAGGCATGTGCCACCACACCCA GCTAATTTTTGTATTCTTAGTAGGGACGGGGTTTCACCATGTTGGCCAGG CTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAA AGTGCTGGGATTACAGGTGTGTGCCATGGTGCCTGGCCTCTTTTTTTTTT TGAGATGGAGTCTTGCTCTGTCGCCCAGGCTAGAGTACAGTGGCAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	380	0.0026	-295	c.517 others(17): Show c.517-3597_517-3303del	OSCP1	ENSG00000116885.18	transcript	ENST00000235532.9	protein_coding	4/9			chr1	TogoVar
PLEKHA4_chr19_48832097_48873617	48834567	CCTGGACT others(288): Show CCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0269 a0002c0002t0004g0269	1	300	0.0033	-295	c.24 others(11): Show c.2427_*2721del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2529		chr19	TogoVar
PRDM15_chr21_41793225_41884344	41806084	CCACCACC others(288): Show CCACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCATCACCATCACCATCACCACCATCA CTACCACCATCACCACCACCACCATCACCACCACCCATCACCACCACCAC CATCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCATCACTACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0025 a0001c0053 a0001c0025 a0001c0053	a0001c0025t0018 a0001c0053t0018 a0001c0025t0018 a0001c0053t0018	a0001c0025t0018g0164 a0001c0053t0018g0292 a0001c0025t0018g0164 a0001c0053t0018g0292	2	406	0.0049	-295	c.265 others(19): Show c.2653-1765_2653-1471del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806117	CCACCACC others(288): Show CCACCACCATCACCACCACCATCACCACCACCACCACCATCACCATCACC ACCACCATCACCACCACCACCATCACCACCACCACCATCACCATCACCAT CACCATCACCACCATCACTACCACCATCACCACCACCACCATCACCACCA CCCATCACCACCACCACCATCACCATCACCACCACCATCACCACCACCAC CATCACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCA TCACTACCACCATCACCACCACCACCATCACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20805.hp1 NA20905.hp1 HG03654.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0045 a0001c0003 a0001c0045	a0001c0003t0019 a0001c0045t0001 a0001c0003t0019 a0001c0045t0001	a0001c0003t0019g0175 a0001c0003t0019g0176 a0001c0045t0001g0072 a0001c0003t0019g0175 a0001c0003t0019g0176 a0001c0045t0001g0072	3	406	0.0074	-295	c.265 others(19): Show c.2653-1798_2653-1504del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRIM2_chr6_57312630_57651850	57392875	TCAGTGAG others(288): Show TCAGTGAGAACTTACGACGTTTGGTTTTCCATTCCTGAGTTACTTCACGT AGAATAGTAGTGTCTCATTCAGGTCACTGCAAATGCTGTTAATTATTCCT TTTTATGGTTGCATAGTATTCCTTATTATATATATATATACATAGACACA CACACACCACAGTTTCTTTACCCACTCATAGATTGATGGGCATTTGGATT GGTTCCACGATTTTGCAATTGTCAGTTGTGCTGCTATAAACATGCATGTG CAAATACCTTTTTCGAATAATGACTTCTTTTCCTCTGGTAGATACC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02630.hp1 others(5): Show HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 others(5): Show a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282	8	300	0.0267	-295	c.693 others(19): Show c.693+10712_693+11006del	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF6_chr20_63976132_64038100	64011752	ATTTCTTT others(288): Show ATTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCATGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGA CAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACG AGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGAT ACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGT AGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG02895.hp1 others(2): Show HG01884.hp2 HG02818.hp2 HG02895.hp1 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0249 a0001c0004t0005g0243	5	294	0.0170	-295	c.152 others(17): Show c.1524+302_1524+596del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PXMP2_chr12_132682587_132709985	132692752	TGAGCTCC others(288): Show TGAGCTCCCTTAGCTAGTTAGAGAGCTCCCTTGCCAGTTAGTTAGTGAGC TCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTT AGTCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAG TTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGT GAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0080 a0001c0004t0002g0080	1	350	0.0029	-295	c.236 others(17): Show c.236+2377_236+2671del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
RGPD4_chr2_107821892_107897544	107827551	GGGCGCTG others(288): Show GGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCTGGCC CGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCT CCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCTGGGCGGCGGC GGCCTGGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTC CTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACC CGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGCCTCCCGACC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03710.hp1 NA20805.hp1 HG01256.hp1 HG03710.hp1 NA20805.hp1	a0004 a0014 a0004 a0014	a0004c0004 a0014c0026 a0004c0004 a0014c0026	a0004c0004t0002 a0014c0026t0002 a0004c0004t0002 a0014c0026t0002	a0004c0004t0002g0124 a0014c0026t0002g0125 a0014c0026t0002g0126 a0004c0004t0002g0124 a0014c0026t0002g0125 a0014c0026t0002g0126	3	374	0.0080	-295	c.72+ others(13): Show c.72+498_72+792del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289696	TCTCTGCT others(288): Show TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCG TGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	290	0.0035	-295	c.166 others(17): Show c.1663-572_1663-278del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79921490	GGAGAGAC others(288): Show GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGA ACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGA GGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAG TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATG GAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAG AGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp2 HG03471.hp1 others(1): Show HG02818.hp2 HG03453.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0044 a0001c0001t0014 a0001c0001t0015 a0001c0001t0044	a0001c0001t0014g0316 a0001c0001t0015g0270 a0001c0001t0015g0277 others(1): Show a0001c0001t0014g0316 a0001c0001t0015g0270 a0001c0001t0015g0277 a0001c0001t0044g0314	4	352	0.0114	-295	c.392 others(17): Show c.392-2385_392-2091del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC9A3_chr5_465456_529449	484088	ACCCCGCC others(288): Show ACCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCT GGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGG GGTCCCCCTGGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGAGAAGC TCGGGTTGGGGTCCCCCTGGCTGGCTCGCCCCGCCGGACCCAGGAGGGTG TGGAGAAGCTCGGGTTGGGGTCCCCCTGGCTGGCTCGCCCCGCCGGACCC AGGAGGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCTGGCTGGCTCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG00735.hp2 others(72): Show HG00423.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01361.hp2 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp1 HG03209.hp2 HG03486.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18963.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0009	a0001c0001 a0001c0003 a0001c0007 others(13): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0030 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0010 a0002c0011 a0004c0012 a0005c0013 a0007c0016 a0009c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0031 a0001c0003t0008 a0001c0003t0009 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0008t0018 a0001c0009t0008 a0001c0009t0009 a0001c0030t0008 a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 a0002c0004t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0006 a0002c0006t0006 a0002c0006t0026 a0002c0010t0003 a0002c0010t0028 a0002c0011t0002 a0002c0011t0003 a0004c0012t0013 a0005c0013t0003 a0007c0016t0002 a0009c0022t0005	a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0051 others(71): Show a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0055 a0001c0001t0004g0138 a0001c0001t0005g0180 a0001c0001t0031g0198 a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0152 a0001c0003t0009g0007 a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0005g0187 a0001c0007t0012g0176 a0001c0008t0018g0124 a0001c0009t0008g0151 a0001c0009t0009g0090 a0001c0030t0008g0150 a0002c0002t0002g0015 a0002c0002t0002g0019 a0002c0002t0002g0049 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0082 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0168 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0186 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0206 a0002c0002t0020g0115 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047 a0002c0010t0003g0201 a0002c0010t0028g0189 a0002c0011t0002g0011 a0002c0011t0002g0101 a0002c0011t0003g0195 a0004c0012t0013g0054 a0004c0012t0013g0132 a0005c0013t0003g0167 a0005c0013t0003g0207 a0007c0016t0002g0017 a0009c0022t0005g0210	75	218	0.3440	-295	c.932 others(15): Show c.932+137_932+431del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	5/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	484151	CGCCGGAC others(288): Show CGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCTGGCT GGCTCGCCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGGGGTC CCCCTGGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGG GTTGGGGTCCCCCTGGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGA GAAGCTCGGGTTGGGGTCCCCCTGGCTGGCTCGCCCCGCCGGACCCAGGA GGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCTGGCTGGCTCGCCCT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0009 a0001c0019t0009	a0001c0019t0009g0008 a0001c0019t0009g0008	1	218	0.0046	-295	c.932 others(14): Show c.932+74_932+368del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	5/16			chr5	TogoVar
STK32B_chr4_5046480_5505989	5317119	ATACATTA others(288): Show ATACATTATAATATATAATATATATGTATAATATACATATTACATATATA TAACATATAATATATATATATAACATATATATATTATATATATAACATAT ATATATTATATATAACATATATATATTATATATAACATATAACATATATA TAATATATAACATATAACATATATATAATATATAATATATAACATATGTA TAATATATATTACATATATAATACATATATATAATATATATAATGTATAT GTATTATATATATTACATATATATAATATATATAATGTATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0123 a0001c0001t0020g0123	1	170	0.0059	-295	c.261 others(19): Show c.261-14098_261-13804del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D13_chr9_128782253_128815430	128801963	GTGTTAGC others(288): Show GTGTTAGCTAGGATGGTCTTGGTCTCCTGACCTCGTGATCTGCCCACCTC AGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTG TTTGTTTTTTGAAATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAA TGGTGCAATCTCGGCTCACCACAACCTCCGCCTCCTGGGTTCAGGTGCTT CTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTATACGCCACCAC GCCTGGCTAATTTTTTTGTATTTTTAATAGAGACAGGGTTTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01106.hp1 others(16): Show HG00642.hp2 HG01081.hp1 HG01106.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0002c0002t0084	a0002c0002t0001g0035 a0002c0002t0001g0203 a0002c0002t0001g0204 others(15): Show a0002c0002t0001g0035 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0002g0008 a0002c0002t0002g0036 a0002c0002t0003g0008 a0002c0002t0003g0036 a0002c0002t0003g0125 a0002c0002t0003g0183 a0002c0002t0003g0205 a0002c0002t0003g0268 a0002c0002t0004g0197 a0002c0002t0004g0207 a0002c0002t0006g0035 a0002c0002t0006g0085 a0002c0002t0006g0134 a0002c0002t0012g0069 a0002c0002t0084g0008	19	398	0.0477	-295	c.544 others(16): Show c.544-1282_544-988del	TBC1D13	ENSG00000107021.16	transcript	ENST00000372648.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
TERT_chr5_1248167_1300068	1273492	CCGGGACC others(288): Show CCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCGGG ACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	392	0.0026	-295	c.228 others(19): Show c.2287-1507_2287-1213del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TJP3_chr19_3703384_3755813	3711029	GAGTAGCT others(288): Show GAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGT ATTTTTAGTACAGACGGGGTTTCACCGTGGTAGCCAAGATGGTCTCTCCT GACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCATGCCCGGCCTTATTTTATTTTTTTTTGAGATGGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGAACGATCTCCGCTCGCTGCAA CCTCCACCTCCTGGGTTCAAAGCGATTCTCCTGTCTCAGCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp1 HG03654.hp1 HG00741.hp1 HG01169.hp1 HG03654.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0002 a0002c0006 a0021c0044 a0001c0002 a0002c0006 a0021c0044	a0001c0002t0001 a0002c0006t0002 a0021c0044t0002 a0001c0002t0001 a0002c0006t0002 a0021c0044t0002	a0001c0002t0001g0380 a0002c0006t0002g0379 a0021c0044t0002g0381 a0001c0002t0001g0380 a0002c0006t0002g0379 a0021c0044t0002g0381	3	398	0.0075	-295	c.-10 others(17): Show c.-10+2480_-10+2774del	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)