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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PCMT1_chr6_149744741_149816419	149762507	TATATATC others(509): Show TATATATCTATGATATATATATCTATGATATATATATCTATGATATATAT ATATCTATGATATATATATCTATGATATATATATCTATGATATATATATC TATGATATATATATATCTATGATATATATATATCTATGATATATATATGA TATATATATCTATGATATATATATATCTATGATATATATATATCTATGAT ATATATATCTATGATATATATATCTATGATATATATATATCTATGATATA TATACCTATGATATATATATACCTATGATATATATACCTATGATATATAT ATCTATGATAATCTATGATATATATGATATATATATCTATGATATATATC TATGATATATATATCTATGATATATATGTTATATATATCTATGATATATA TCTATGATATATATATCTATGATATATATGATATATATATCTATGATATG TATATCTATGATATATATGATATATATATCTATGATATATATGATATATA TATCTATGATATATATG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	334	0.0030	-516	c.56- others(15): Show c.56-8639_56-8124del		PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHA4_chr19_48832097_48873617	48834421	TTGGACTC others(509): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0267 a0002c0002t0004g0267	1	300	0.0033	-516	c.23 others(11): Show c.2352_*2867del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2675		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834558	GGCTGGGA others(509): Show GGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCC GAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAG GTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0239 a0002c0002t0019g0239	1	300	0.0033	-516	c.22 others(11): Show c.2215_*2730del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2538		chr19	TogoVar
RAB40C_chr16_585066_634268	611595	CGGGACAG others(509): Show CGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTG GCCTGTAGAATCAAGAGCAGAGACAGCCGCCCTGGCCTGTAGAATCAAGA GCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCC TGGCCTGTAGATTCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAA GAGCAAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCG CCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAA TCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCCTGGCCTGT AGAATCAAGAGCAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGG GACAGCCGCCCTGGCCTGTAGCATCAAGAGCAAGGGACAGCCGCCCTGGC CTGTAGAATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20905.hp2 HG03927.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0229 a0001c0001t0003g0218 a0001c0001t0003g0229	2	350	0.0057	-516	c.143 others(17): Show c.143-5543_143-5028del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHOX_chrX_625791_656584	628387	GTCTGTCT others(509): Show GTCTGTCTCTCCCTTTCTCTCTCTCTGTCTCTCCCTCTCTCTCCCTGTCT GTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTTTCT CTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCCATCT GTCTGTCTCTCTCTTTCTCTCTCTATCTCTCCCTCTCTCTCCCTGTCTGT GTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTTTCTCT CTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCCATCTGT CTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGT TTCTCTCTCTCTATCTGTCTGTCTCTCTCTTTTTCTCTCTCTATCTCTCC CTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGT CTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTGT TTCTCTATCTCCATCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0009 a0001c0001t0061g0009	1	220	0.0046	-516	c.-25 others(11): Show c.-2510_-1995del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding					2403		chrX	TogoVar
SMOC2_chr6_168436184_168672992	168594285	TCCGAGCT others(509): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAG GATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCT AGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTT TCTAGAGGATCTCTGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCT TTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATC TTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCAT CTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCA TCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGC ATCTTTCTAGAGGATCG	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	180	0.0056	-516	c.638 others(17): Show c.638-4479_638-3964del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4_chr20_61969798_62070881	62058179	CGGGGGGC others(509): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGG GCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAG GCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCC AACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCC ACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01070.hp1 others(22): Show HG00140.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02056.hp1 HG02451.hp1 HG02723.hp2 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp2 NA18945.hp2 NA18967.hp2 NA19063.hp1 NA19091.hp1 NA20752.hp2	a0001 a0005 a0011 others(1): Show a0001 a0005 a0011 a0014	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0005c0011 a0011c0033 a0014c0023	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0005c0011t0001 a0011c0033t0001 a0014c0023t0001	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0058 others(22): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0003t0001g0041 a0001c0003t0001g0057 a0001c0004t0001g0185 a0001c0008t0001g0024 a0005c0011t0001g0003 a0011c0033t0001g0305 a0014c0023t0001g0027	25	314	0.0796	-516	c.136 others(19): Show c.1360+5756_1360+6271del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
TEX29_chr13_111315642_111349248	111340175	AATCATAA others(509): Show AATCATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAAC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	416	0.0024	-516	c.239 others(15): Show c.239+254_239+769del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340648	CATCATAA others(509): Show CATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATAAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCCTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAAA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	416	0.0024	-516	c.239 others(16): Show c.239+802_239+1317del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340831	GTGTTTAG others(509): Show GTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTA GTGAGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATAATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	416	0.0024	-516	c.239 others(16): Show c.239+956_240-1353del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
ZNF511_chr10_133303914_133318161	133317258	GCACCGCC others(509): Show GCACCGCCCCCAGGACACAGAGATGGGAAGACCACACCCCCCCCCAGACA CACAGATGGAAAGGCCTCACCCCCCCAGGACACAGAGATGGAAAGACCAC ACCCCCCCTCCCCCAGGACACAGAGATGGAAAGACCACACCCCCCCAGGA CACAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACAGAGATGGA AAGACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGACCACACCC CCCACACACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATG GAAAGACCACACACCCCCCCCAGACACAGAGATGGAAAGACCACACCTCC CCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCACA CCCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACA CAGAGATGGAAAGACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01069.hp2 others(63): Show HG00280.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp2 HG01891.hp2 HG02004.hp2 HG02015.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18944.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18988.hp2 NA18995.hp2 NA18998.hp2 NA19009.hp2 NA19030.hp1 NA19055.hp1 NA19065.hp2 NA19083.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0002g0017	66	282	0.2340	-516	c.43 others(11): Show c.4393_*4908del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4098		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393138	GAAGGCAG others(509): Show GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0048 a0003c0048	a0003c0048t0028 a0003c0048t0028	a0003c0048t0028g0036 a0003c0048t0028g0036	1	346	0.0029	-516	c.181 others(21): Show c.1811-13351_1811-12836del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394214	AGGTAGTC others(509): Show AGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp2 HG02622.hp2 HG03453.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0011c0043 a0001c0004 a0011c0043	a0001c0004t0087 a0011c0043t0177 a0001c0004t0087 a0011c0043t0177	a0001c0004t0087g0299 a0011c0043t0177g0300 a0001c0004t0087g0299 a0011c0043t0177g0300	2	346	0.0058	-516	c.181 others(21): Show c.1811-14427_1811-13912del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(508): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(6): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG02027.hp2 HG02083.hp1 HG02155.hp1 NA18952.hp2 NA19012.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0162 others(6): Show a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335	9	406	0.0222	-515	c.806 others(15): Show c.806+133_806+647del		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
ATP11A_chr13_112685038_112892168	112766810	ACTGTGGG others(508): Show ACTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGC TGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCAC TGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGG TGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTG TGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATC GGGGGCCCCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCT GTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTG GGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG GGGGCGTTGGGGGCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(62): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01981.hp1 HG02004.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02451.hp1 HG03239.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18950.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0022 a0001c0024 a0001c0026 a0001c0031 a0001c0039 a0001c0046 a0002c0003 a0002c0010 a0002c0025 a0003c0007 a0003c0008	a0001c0001t0001 a0001c0001t0010 a0001c0001t0052 others(38): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0052 a0001c0001t0054 a0001c0001t0064 a0001c0001t0066 a0001c0001t0073 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0018 a0001c0002t0030 a0001c0002t0057 a0001c0004t0001 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0005t0017 a0001c0005t0035 a0001c0005t0036 a0001c0005t0063 a0001c0006t0001 a0001c0006t0056 a0001c0006t0077 a0001c0011t0001 a0001c0011t0046 a0001c0011t0065 a0001c0022t0001 a0001c0024t0038 a0001c0026t0001 a0001c0031t0007 a0001c0039t0037 a0001c0046t0016 a0002c0003t0001 a0002c0003t0002 a0002c0010t0010 a0002c0025t0002 a0003c0007t0005 a0003c0007t0011 a0003c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0131 a0001c0001t0001g0151 others(62): Show a0001c0001t0001g0016 a0001c0001t0001g0131 a0001c0001t0001g0151 a0001c0001t0001g0210 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0010g0095 a0001c0001t0052g0176 a0001c0001t0054g0008 a0001c0001t0064g0220 a0001c0001t0066g0097 a0001c0001t0073g0171 a0001c0002t0001g0019 a0001c0002t0001g0102 a0001c0002t0002g0088 a0001c0002t0007g0237 a0001c0002t0007g0253 a0001c0002t0018g0005 a0001c0002t0030g0096 a0001c0002t0057g0126 a0001c0004t0001g0017 a0001c0004t0006g0123 a0001c0004t0006g0132 a0001c0005t0001g0039 a0001c0005t0001g0090 a0001c0005t0001g0124 a0001c0005t0002g0081 a0001c0005t0002g0127 a0001c0005t0009g0174 a0001c0005t0017g0080 a0001c0005t0017g0099 a0001c0005t0035g0101 a0001c0005t0036g0172 a0001c0005t0063g0173 a0001c0006t0001g0007 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0006t0001g0128 a0001c0006t0001g0134 a0001c0006t0001g0145 a0001c0006t0001g0182 a0001c0006t0056g0162 a0001c0006t0077g0159 a0001c0011t0001g0003 a0001c0011t0001g0013 a0001c0011t0046g0011 a0001c0011t0065g0130 a0001c0022t0001g0217 a0001c0024t0038g0043 a0001c0026t0001g0067 a0001c0031t0007g0160 a0001c0039t0037g0078 a0001c0046t0016g0062 a0002c0003t0001g0040 a0002c0003t0002g0192 a0002c0010t0010g0222 a0002c0025t0002g0037 a0003c0007t0005g0001 a0003c0007t0005g0177 a0003c0007t0005g0205 a0003c0007t0011g0105 a0003c0007t0011g0115 a0003c0007t0011g0175 a0003c0008t0001g0010 a0003c0008t0001g0107	65	254	0.2559	-515	c.40- others(17): Show c.40-18306_40-17792del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
BRSK2_chr11_1384934_1467689	1432386	GTCTGGTC others(508): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0048 a0002c0002t0002g0015 a0001c0001t0001g0048 a0002c0002t0002g0015	2	360	0.0056	-515	c.92- others(15): Show c.92-3653_92-3139del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19						chr11	TogoVar
CNTN5_chr11_99015949_100363885	99315441	AGAGTGAG others(508): Show AGAGTGAGGAAAGCACCAGGTTGAACTTTGGAGATGGAAAAGAAAATTCC AGATTTGGCACCTACTTCTGAGTCATCAACAGAACATAGTCAATTATTAG ATGGAAATAGTTGGGATAAAAAAATAAGTAATTGACAAGGAACATTACTT TATATTTTGTGTTGTTTTATTTCGCTTTAGCCAAGAATGCATAGGAAAAA ATAGATAATATTAAAAAGGTAAAAATTATGGGATGGTATGAAAGCATATA GAAAGTCTATATGGGTATATTGAATAGACAAAGTTTTAGAATGTAAATCG CGGAGTGGGCCATGGATATTGAAAATTAGAAGGTGACAGGGATTACACAG GGATTGAATATATATTGCAAGCCAGTGATTTTTTTTCATAGAGTATTTCT TTTAATTAGAAAGCCACTGGTAACCTTAGCAAGAGTTGAATGATAGAAAG AAGAGACAATAGAATGACACAAATTATAGAGTCGATAGAATGACGCAAAT TATAGAGAGGTAAATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01169.hp1 HG01243.hp2 others(2): Show HG00735.hp1 HG01169.hp1 HG01243.hp2 HG02258.hp1 NA19070.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0006 a0010c0010 a0001c0001 a0006c0006 a0010c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0006c0006t0009 a0010c0010t0011	a0001c0001t0005g0014 a0001c0001t0009g0043 a0001c0001t0014g0016 others(2): Show a0001c0001t0005g0014 a0001c0001t0009g0043 a0001c0001t0014g0016 a0006c0006t0009g0042 a0010c0010t0011g0009	5	66	0.0758	-515	c.-20 others(19): Show c.-209-9902_-209-9388del		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
EIF2S2_chr20_34083309_34117243	34113242	TGAATTCA others(508): Show TGAATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGAATTACA GGCGTGAGCCAGCTCGCCTGGCCTATAATTCTTACATGATAAGAAAGTAG AACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCAAGGCGGGCGAATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGCCA ACATGGCGAAACATTGTCCCGACTAAAAATACAGAAATTTGCCGCGTGTG GTGGTAGGCGCCCATAATCCCAGCTACTCTGGAGACTGAGGCAGAGAATC GCTTGAATTCGGGAGGCAGAGGTTTCAGTGAACCGAGTTTGCGCCACTGC ACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAGAAGAGAAAG AAAGAAAGAAAGCAGGAGGGAGGGAGGGAAGGAAGGAAGGAGGGAAGGTA GAACCAAGTGAGGCTAAAGCTGCAATTGGTTAAAAAAAAAAAAAAAAAAA AAAAGCTCTGCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	362	0.0028	-515	c.-16 others(11): Show c.-1647_-1133del		EIF2S2	ENSG00000125977.7	transcript	ENST00000374980.3	protein_coding					1000		chr20	TogoVar
RASA3_chr13_113972783_114137623	114103662	CGGCCACA others(508): Show CGGCCACAGACACCCACCCCTGATGACACCGGAGCCCGAGTCTCGGCTCA GCACCACCACCCCCGATGCGTCCACACTGCCACGGCCACAGACACCCACC CCCGATGCGTCCATGCTGCCACAGCCACGGACACCCACCCCCGATGCGTC CACACTGCCGCCGACCACAGACACCCACCCCTGATGCGTTCACACTGCCC CCGGCCACAGACACCCACCCCTGATGCGTCCACACTGCCCCGGCCACGGA CACCCACCCCCGATGCGTCCACGCTGCCACAGCCACGGACACCCACCCCC GATGCGTCCACACTGCCGCCGGCCACAGACACCCACCCCTGATGCGTTCA CACTGCCCCCGGCCACAGACACCCACCCCCGATGCGTCCATGCTGCCACG GCCACGGACACCCACCCCCGATGCGTCCACGCTGTCACGGCCACGGACAC CCACCCCTGATGCGTCCACACTGCCACGGCCACGGACACCCACCCCTGAT GCGTCCACACTGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp1 HG03209.hp2 others(2): Show HG00639.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0005g0018	5	67	0.0746	-515	c.55+ others(17): Show c.55+28258_55+28772del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1070332	GGGCATCA others(508): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCAC ACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0114 a0001c0009t0002g0114	1	118	0.0085	-515	c.224 others(19): Show c.2241+2786_2241+3300del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
ATP8A2_chr13_25366974_26030851	25875229	TAGTAAAT others(507): Show TAGTAAATCTTAAGTTTTTATCACAATTTTAAAAATGTACGTTTGTGTGA TTTACTGATTCATATCAGCTTCTCTCTGTAAACTGGAAGCTCTGTGAGTG AAGTGAATATTCTCAAATATATCCTTAGTACCTAGTACCCATCTTTTTTT GGTATTCAGTAAATATTTAAATGAAGGAATTCATAACATTGAACAACCTC TCGTGTACAATTGGGTGGGTCTGTAGTTGGCTCTGTGCAGTTAGTGCCTG GTATCTGTTTGCTGCATTAACACAAACAGATGCCAAGTATTTCAGCATTT ATACAATTATAATTGTATAAATTACACACAGGATCTGCACCTAAGAAGTG ATTAATAGATTAATGAATTTAGCATTTTTCTTAAGAGAAGTGTGTGCAAA AAGTCAGTACCACAAACCATATATTTTTTTCACCCAAAGAATGATAGACA CTTCCATTTAAAATTTCAGCCCAACTGTTTTAGCCACATAGGTGATGTCT GTGGCATGATATTCA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG03453.hp2 others(2): Show HG02723.hp2 HG02886.hp2 HG03453.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0030 a0001c0001t0064 a0001c0002t0028 others(2): Show a0001c0001t0030 a0001c0001t0064 a0001c0002t0028 a0001c0002t0070 a0001c0007t0007	a0001c0001t0030g0087 a0001c0001t0064g0072 a0001c0002t0028g0014 others(2): Show a0001c0001t0030g0087 a0001c0001t0064g0072 a0001c0002t0028g0014 a0001c0002t0070g0068 a0001c0007t0007g0094	5	122	0.0410	-514	c.318 others(21): Show c.3183+12822_3183+13335del		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36						chr13	TogoVar
C7orf50_chr7_992006_1143247	1128641	CGTCACCC others(507): Show CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGT GCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAG TGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGCGA TCTCAGCTCATCTCA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0299 a0002c0002t0003g0303 a0001c0001t0002g0299 a0002c0002t0003g0303	2	326	0.0061	-514	c.-1- others(15): Show c.-1-1769_-1-1256del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CACNB2_chr10_18135424_18548557	18214146	AAGTTCTT others(507): Show AAGTTCTTCTGAAAGGGACCCAAGCTAAAGTTTCCACGACAGGGTTTCAA ATTCATTTTTTAAAACGGGGGCAGCACATCCCGGTTCTGATTTGGAAACA AGCATTGCTGCCTGGAATGGATTAAAAACAGAAGATCTCTACTTCTGCAT CCATTTGTACCTTACACAGGGATGCTTTTAAAAATATTTAACAACTGTGA CTGGGTGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGAGAGGCCGAGG CAGGAGTATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGG TGGAACCCCATCTTTACCAAAAATATAAAAAATTAGCCGAGTGTGGTGGC ATGTGCCTGTAATCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTT GAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATAGCACCACTGCATTA CAGCCTGGGCAATGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAATTAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(94): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp2 NA18952.hp1 NA18952.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18983.hp1 NA18994.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0002t0002 a0001c0002t0005 a0001c0002t0017 a0001c0002t0020 a0001c0002t0027 a0001c0002t0043 a0001c0002t0044 a0001c0002t0057 a0001c0002t0059 a0001c0004t0010 a0001c0004t0038 a0001c0005t0022 a0001c0006t0049 a0002c0003t0014 a0002c0003t0025 a0002c0003t0056	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0025 others(94): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0190 a0001c0001t0003g0047 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0003g0095 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0003g0144 a0001c0001t0003g0173 a0001c0001t0003g0193 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0007g0182 a0001c0001t0008g0063 a0001c0001t0008g0083 a0001c0001t0009g0177 a0001c0001t0011g0055 a0001c0001t0011g0125 a0001c0001t0012g0135 a0001c0001t0016g0006 a0001c0001t0016g0181 a0001c0001t0019g0124 a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0001t0029g0009 a0001c0001t0031g0056 a0001c0001t0032g0120 a0001c0001t0037g0194 a0001c0001t0041g0074 a0001c0001t0042g0093 a0001c0001t0046g0102 a0001c0001t0047g0001 a0001c0001t0048g0195 a0001c0001t0054g0162 a0001c0001t0055g0170 a0001c0002t0002g0050 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0092 a0001c0002t0002g0106 a0001c0002t0002g0112 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0183 a0001c0002t0002g0187 a0001c0002t0005g0051 a0001c0002t0005g0097 a0001c0002t0005g0100 a0001c0002t0005g0105 a0001c0002t0005g0118 a0001c0002t0005g0137 a0001c0002t0005g0200 a0001c0002t0017g0154 a0001c0002t0017g0164 a0001c0002t0020g0103 a0001c0002t0020g0145 a0001c0002t0027g0016 a0001c0002t0043g0101 a0001c0002t0044g0138 a0001c0002t0057g0151 a0001c0002t0059g0054 a0001c0004t0010g0084 a0001c0004t0010g0085 a0001c0004t0010g0122 a0001c0004t0038g0139 a0001c0005t0022g0186 a0001c0006t0049g0076 a0002c0003t0014g0073 a0002c0003t0014g0078 a0002c0003t0014g0111 a0002c0003t0025g0012 a0002c0003t0056g0053	97	200	0.4850	-514	c.213 others(19): Show c.213+63173_213+63686del		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
COX10_chr17_14064504_14213677	14147662	AGATAAGT others(507): Show AGATAAGTGTTTGAGGGGATGGATACCCCATTTTCCATGATGTGACTATT ATACATTGCATGACGGTATCAGAATATCTCATGTACCCCATGTACCTACT ACGTACCTATAAAAATTAAAACAATTTAAAAAAAATTTTTAAGAAAACAC AGGGTCTTTATAGACAGTTGAAAATTACAAAAAGGTAAAGCATAGTAAAT CAGCTTCCCTCTCACTATCCAGAGACAAGGATTGTAAATATTTTGATGTT TTCTCCTTCCATCTTTTTTCAGAAAGCATTGCTTGCAAACTGAGATCTCT CTGGAAGGAAAAAGGGGTCAGTTCCATACAGTGATTCTTGGAGCTAGTAA AAACCAGTTTAAGTTTCTGAGTGTTTTACTTGTAGGATGTGGTACTTTGC CTCTGATAAGTGCTAGGTGACCTTTTAGATCCTTTATTTTCTCCTTTAAG GATGAAGCCTTAAAATCCAGCCTAGTGAGAGAGGGCCTGAGTAATCTGTT TAGAGGAGAACATTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp1 NA20129.hp2 HG01884.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0312 a0001c0001t0011g0313 a0001c0001t0011g0314 a0001c0001t0011g0312 a0001c0001t0011g0313 a0001c0001t0011g0314	3	322	0.0093	-514	c.625 others(19): Show c.625-12214_625-11701del		COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	4/6						chr17	TogoVar
CSNK2A1_chr20_467498_548790	505558	CTCACCGT others(507): Show CTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGTC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCT GGCCCATTGTATTTTTTTTTTTTTTAAATTAGGCCAATTAAAATACGTGT GTTTCAAATCCTAGAATTAGAAAAACTTATACCTTTCAATTATTCTTTCT AATCCCAAACTGTTTACATCTTTATTGGCACATGACATGGAGCTGGCTTG TATTAAGGTTTGTTCTAAATACGTTTGTCTCCAACAAGAGACAGCTTTCC CCAAGAGAATAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAAGC CCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCTAGTAGC TGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTT AGTAAAGACGGGGTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	316	0.0032	-514	c.102 others(15): Show c.102-843_102-330del		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	3/13						chr20	TogoVar
ERC1_chr12_986223_1500931	1086097	GTTGTTGA others(507): Show GTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATT ATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCC TATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTAT TATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGC CTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAG GCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAA GTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTA TTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGC CCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0037 a0002c0002t0089g0037	1	162	0.0062	-514	c.108 others(19): Show c.1086+2524_1086+3037del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089746	GTTGTTGA others(507): Show GTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTT ATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCC TATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTAT TATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGC CTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAG GCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAA GTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA TTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGC CCGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0082 a0002c0002t0038g0082	1	162	0.0062	-514	c.108 others(19): Show c.1086+6173_1086+6686del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D1_chr3_52689486_52710791	52709285	CACAGTCT others(507): Show CACAGTCTTAAAGATGAGTTTTTAAATTAATTTAGGAAGATGAATTAAGC ACTCAAGTAAAAACGATAAAAGTGGGAAGAAAAGATGTTTAAACAAAATA AAAATATACAGTATGGTAATTAATAAGAAAGTATGGGGGAAGTCAGGTGT GGTGGTTCATGCCTATAATCCCAGCACTTTCAGAGGCCGATGCAGGAGGA CTGCTTGAATGCAGTTTGAGACCAGCCTGGGCAACACAGACTTCCTCTCC ACAAAAAATTTTAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCC TAGCTACTTGAGGGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGGTCA AGGCTGCAGTGAGCTATGATCACCTCACTGCACTCCAGGCTGGGTGACAG AGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGATATGGGTGAG ATTCCTTTAATTCTAATAAAATACCTACTTTATACCAATACATTAGAAAA ATTAAGTAAAACTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	394	0.0025	-514	c.-43 others(11): Show c.-4389_-3876del		GLT8D1	ENSG00000016864.19	transcript	ENST00000266014.11	protein_coding					3495		chr3	TogoVar
HCN1_chr5_45249948_45701380	45675091	GGAACCAG others(507): Show GGAACCAGTGTTCTCACTACTACTCTGAATTTTATCACATATATCCTGCA AGAAGCATACTGTCACATACCTACAGATAATGTGTAGAACCCATCTTATA TCGAGTCTGATAGTAGCTTGGCCCCCAATTCAGATGTGGCATGAGATCAA CTTTTGTCCCTTAAGATATCCTAGGCCAGCCAAGTCCTTTCTCTCATTCT GTCTGCTAGTCACATTTTATCTATTACCCATACAAACCTTTGTTGGCTGT TCCTTCCCTAAACACACTGGATCTCATAATGGGAATTATCCAGAACACTC ATTCTCTAGCCCCACTGAGTCACTAGTGATCCTTGATTCAAACACATCCA AAAGCCAAAACCCAAATGTGGTTTGAGCCTATCATCTAAATTCTCTCTAT ACACACAGGCATGCTGAACTAGTAGAGAAAAAAATCACACAATTATGCCA AAGATAGCAAGACAAATTTATGTTCTTCAACATCTGCCCCATTTTTTCAA ACTGGACAGTACCTT	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	226	0.0044	-514	c.425 others(19): Show c.425+20064_425+20577del		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	1/7						chr5	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737989	ACCATCCA others(507): Show ACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGTGTGAG CGTGTGACCGTCCGTGTGAGTGTGTGACCATCCGTGTGAGAGTGTGACCA TCCATGTGAGCATCCATGTGACCGTCCGTGTGAGCGTGACTGTCCGTGTG TGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTG AGCGTGTGACCGTCCGTGTGTGTGACCATCCGTGTGAGAGTGTGACCATC CATTTGAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGACCATC CATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGTGAGCGTGTGAC CGTCCGTGTGTGTGACCATCCGTGTGAGTGTGACCATCCATGTGAGCATC CGTGTGACCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTGTGAGAGAGTG ACCATCCATGTGAGCATGTGTGACCGTCCGTGTGAGCATCCGTGTGAGCG TGTGACCGTCCGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(92): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02735.hp2 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0002c0002 a0002c0013 a0002c0023 a0004c0030 a0006c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0029 a0001c0004t0004 a0001c0004t0007 a0001c0004t0012 a0001c0004t0026 a0001c0005t0005 a0001c0005t0007 a0001c0005t0012 a0001c0006t0003 a0001c0009t0002 a0001c0011t0003 a0001c0012t0004 a0001c0020t0003 a0001c0021t0003 a0002c0002t0001 a0002c0002t0005 a0002c0013t0007 a0002c0023t0001 a0004c0030t0005 a0006c0018t0003	a0001c0001t0002g0285 a0001c0001t0002g0307 a0001c0001t0002g0308 others(91): Show a0001c0001t0002g0285 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0003g0207 a0001c0001t0027g0202 a0001c0003t0003g0006 a0001c0003t0003g0127 a0001c0003t0003g0131 a0001c0003t0003g0180 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0228 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0262 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0289 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0005g0010 a0001c0003t0005g0018 a0001c0003t0005g0019 a0001c0003t0009g0287 a0001c0003t0009g0288 a0001c0003t0009g0322 a0001c0003t0014g0040 a0001c0003t0015g0239 a0001c0003t0029g0257 a0001c0004t0004g0011 a0001c0004t0004g0026 a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0030 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0159 a0001c0004t0004g0160 a0001c0004t0004g0186 a0001c0004t0004g0256 a0001c0004t0004g0300 a0001c0004t0004g0324 a0001c0004t0007g0016 a0001c0004t0007g0022 a0001c0004t0012g0017 a0001c0004t0012g0033 a0001c0004t0026g0029 a0001c0005t0005g0203 a0001c0005t0007g0023 a0001c0005t0012g0009 a0001c0006t0003g0152 a0001c0006t0003g0158 a0001c0006t0003g0286 a0001c0009t0002g0014 a0001c0009t0002g0015 a0001c0009t0002g0020 a0001c0011t0003g0013 a0001c0011t0003g0025 a0001c0012t0004g0031 a0001c0012t0004g0032 a0001c0020t0003g0243 a0001c0021t0003g0258 a0002c0002t0001g0247 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0005g0223 a0002c0002t0005g0263 a0002c0013t0007g0007 a0002c0013t0007g0024 a0002c0023t0001g0246 a0004c0030t0005g0299 a0006c0018t0003g0245	95	330	0.2879	-514	c.603 others(17): Show c.603-5342_603-4829del		MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31						chr16	TogoVar
MOV10L1_chr22_50085006_50166687	50100159	TTTTTTGT others(507): Show TTTTTTGTATTTTTAGTAAAGATGGGGTTTCATCAGGTTGGCCGGGCTGG TCTCGAACTCTTGACCTTAGGTGATCCACCTGCCTCGGCCTCCTAAAGTG CTGGGATTACAGGCATGAGCCACCACACCCAGCCAGGTCACTGTTTAAAC TTGTGCTTTTATGTGTTTTGTGTTCATTTGTTAAATGCAGTCAGTAATTT CTGGGTAGTTGTTGCTTCCATATAATTATAGTGTTATGATCTAAGTTAGT GTTACTGGCATGCTGAGGTACTATTTAAAGTACTTTAGATGTTTTAAAAT AGGGCTTGGGGATGACATTGTACGTTTCCTAAAGTATATATCCTTTTTCT TTCTTTCTTTCTTTCTTTTTTTTGAGATGGAGTCTCACCCTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCAGCTTACTGCAACCTCCGCCTCCTGG GTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGACTACAGGTGCCCACCA CCACAGCAGGCTAAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0014 a0014	a0014c0041 a0014c0041	a0014c0041t0002 a0014c0041t0002	a0014c0041t0002g0031 a0014c0041t0002g0031	1	400	0.0025	-514	c.442 others(16): Show c.442+565_442+1078del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MYZAP_chr15_57586904_57690364	57687890	TAATATGT others(507): Show TAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATAATGTGTGTACAATA TACACATATATAAATGTGTGTACAATATACACATATATAAATGTGTGTAC AATATACACATATATAATATGTGTGTACAATATACACATATATATGTGTG TACAATATACACATATATATGTGTGTACAATATACACATATATATGTGTG TACAATATACACATATATATGTGTGTACAATATACACATATATATGTGTG TACAATATACACATATATATGTGTGTACAATATACACATATATATGTGTG TACAATATACACATATATTATGTGTGTACAATATACACATATATTATGTG TGTACAATATACACATATATAATATGTGTGTACAATATACACATATATAT AATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATATAC ACATATAATATAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	352	0.0028	-514	c.33 others(11): Show c.3393_*3906del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2527		chr15	TogoVar
NEK4_chr3_52703444_52775940	52709285	CACAGTCT others(507): Show CACAGTCTTAAAGATGAGTTTTTAAATTAATTTAGGAAGATGAATTAAGC ACTCAAGTAAAAACGATAAAAGTGGGAAGAAAAGATGTTTAAACAAAATA AAAATATACAGTATGGTAATTAATAAGAAAGTATGGGGGAAGTCAGGTGT GGTGGTTCATGCCTATAATCCCAGCACTTTCAGAGGCCGATGCAGGAGGA CTGCTTGAATGCAGTTTGAGACCAGCCTGGGCAACACAGACTTCCTCTCC ACAAAAAATTTTAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCC TAGCTACTTGAGGGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGGTCA AGGCTGCAGTGAGCTATGATCACCTCACTGCACTCCAGGCTGGGTGACAG AGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGATATGGGTGAG ATTCCTTTAATTCTAATAAAATACCTACTTTATACCAATACATTAGAAAA ATTAAGTAAAACTGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0079 a0001c0001t0042g0079	1	318	0.0031	-514	c.19 others(11): Show c.1978_*2491del		NEK4	ENSG00000114904.13	transcript	ENST00000233027.10	protein_coding	16/16				1978		chr3	TogoVar
PCGF3_chr4_700832_775089	747146	GCCCCGGG others(507): Show GCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCT GCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0074 a0001c0001t0036g0074	1	366	0.0027	-514	c.462 others(17): Show c.462+2462_462+2975del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PLCXD1_chrX_276381_308356	277361	GGGGACAG others(507): Show GGGGACAGGAGGGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGG GGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAG GGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTG GGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGG GAGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGG GGACCTGGGATGTGAGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTGG GGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGG AGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGG GACCTGGGATGTGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGAC ACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGA CATGGGGACAGGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0017 a0001c0001t0043g0017	1	176	0.0057	-514	c.-43 others(11): Show c.-4344_-3831del		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					4019		chrX	TogoVar
PPP2R3B_chrX_328933_391907	343548	CTCGCCAA others(507): Show CTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTG AGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGG AGTGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGG CGGGAGTGAGACCTCAGCAACGGGAGGCGGGAGTGAGACCTCACCAAGGA GACGCGGGAGTGAGACCTCAGCAACGGGAGGGGGGGAGGGAGACCTCACC AAGGAGACGCGGGAGTGAGACCTCAGCAACGGGAGGCGGTAGGGAGACCT CACCAAGGAGACGCGGGAGTGAGACCTCAGCAACGGGAGGCGGGAGGGAG ACCTCACCAAGGAGAGGCGGGAGGGAGACCTCAGCAACGGGAGGCGGGAG GGAGACCTCAGCAACGGGAGGCGGGAGGGAGACCTCAGCAACGGGAGGCG GGAGGGAGACGTCGCCAAGGAGAGGCGGGAGGGAGACGTCGCCAACGGGA GGCGGGAGGGAGACG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0010 a0004c0012t0010	a0004c0012t0010g0024 a0004c0012t0010g0024	1	25	0.0400	-514	c.103 others(19): Show c.1036+1454_1037-1618del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12						chrX	TogoVar
RPH3AL_chr17_207389_357807	288351	CCTCTCTC others(507): Show CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp1 NA18993.hp2 HG02818.hp1 HG03516.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0006 a0001c0006t0004 a0001c0001t0003 a0001c0001t0006 a0001c0006t0004	a0001c0001t0003g0101 a0001c0001t0006g0120 a0001c0006t0004g0022 a0001c0001t0003g0101 a0001c0001t0006g0120 a0001c0006t0004g0022	3	133	0.0226	-514	c.352 others(17): Show c.352-7011_352-6498del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SPCS1_chr3_52701106_52716148	52709285	CACAGTCT others(507): Show CACAGTCTTAAAGATGAGTTTTTAAATTAATTTAGGAAGATGAATTAAGC ACTCAAGTAAAAACGATAAAAGTGGGAAGAAAAGATGTTTAAACAAAATA AAAATATACAGTATGGTAATTAATAAGAAAGTATGGGGGAAGTCAGGTGT GGTGGTTCATGCCTATAATCCCAGCACTTTCAGAGGCCGATGCAGGAGGA CTGCTTGAATGCAGTTTGAGACCAGCCTGGGCAACACAGACTTCCTCTCC ACAAAAAATTTTAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCC TAGCTACTTGAGGGGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGGTCA AGGCTGCAGTGAGCTATGATCACCTCACTGCACTCCAGGCTGGGTGACAG AGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGATATGGGTGAG ATTCCTTTAATTCTAATAAAATACCTACTTTATACCAATACATTAGAAAA ATTAAGTAAAACTGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0001 a0001c0001t0028g0001	1	410	0.0024	-514	c.14 others(11): Show c.1474_*1987del		SPCS1	ENSG00000114902.14	transcript	ENST00000619898.5	protein_coding	4/4				1474		chr3	TogoVar
TAF4_chr20_61969798_62070881	62057739	GGGGGGCC others(507): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACC AGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGG CCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGG CCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGA CGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCA ACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCA CAGACAATGGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01167.hp1 others(22): Show HG00323.hp2 HG00642.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01258.hp2 HG01978.hp2 HG02040.hp1 HG02165.hp1 HG02273.hp2 HG02738.hp1 HG03239.hp1 HG03688.hp1 HG03834.hp2 HG04184.hp1 NA18942.hp1 NA18950.hp1 NA18956.hp1 NA18964.hp2 NA18982.hp1 NA18983.hp2 NA19002.hp1 NA19082.hp2 NA19084.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0003c0007t0001 a0001c0001t0001 a0001c0001t0003 a0003c0007t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0152 others(22): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0003g0159 a0001c0001t0003g0161 a0003c0007t0001g0015 a0003c0007t0001g0016 a0003c0007t0001g0017	25	314	0.0796	-514	c.136 others(19): Show c.1360+6198_1360+6711del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
THOP1_chr19_2780503_2820807	2818035	CCAAGGAT others(507): Show CCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG GTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGA TGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAA GGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGA TAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG03130.hp1 HG02257.hp1 HG02818.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0010g0071 a0001c0001t0010g0072 a0001c0001t0010g0073	3	370	0.0081	-514	c.47 others(11): Show c.4760_*5273del		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding					2229		chr19	TogoVar
TPO_chr2_1408463_1548673	1530912	CCCCCACT others(507): Show CCCCCACTCTGTGCGACCTCCCCAAATCCCCCCACTATGTGCGACCTCCT CAAATCCCCCCAGTATGTGCAACCTCCTCAAATCCCTCCACTCTGTGCAA CCTCACCCTATCTTTCCCACTGTGTGCAACCCCCCCAAATACCCCCACTA TGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCC CCACTGTGTGCAACCTCCCCAAAACCCCCCACTGTGTGCAACCTCCCCAA ATCCCCCCCACTGTGAGCAACCTCCCCAAATCCCCACACTGTCTGCAACC ACCCCAAATCGCCCCCACTGTGTGCAACCGCCTCATATTCCCCCCACTGT GTGGACCCTTCTCAAATCCCCCCTAATGTCAGCAACTTCCCTAAATCCCC CAACTGTGTTCAACCTCCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCA AATCCTCCCGACTCTGTGCAACCTCCCAAAATTGCCCCCACTGTGTTCAA CCTCCCCAAATCCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 NA18971.hp2 HG02145.hp2 HG03209.hp2 NA18971.hp2	a0000 a0001 a0007 a0000 a0001 a0007	a0000c0019 a0001c0001 a0007c0020 a0000c0019 a0001c0001 a0007c0020	a0000c0019t0004 a0001c0001t0002 a0007c0020t0004 a0000c0019t0004 a0001c0001t0002 a0007c0020t0004	a0000c0019t0004g0007 a0001c0001t0002g0065 a0007c0020t0004g0018 a0000c0019t0004g0007 a0001c0001t0002g0065 a0007c0020t0004g0018	3	130	0.0231	-514	c.261 others(19): Show c.2619-9678_2619-9165del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76393740	TGGGGGCA others(507): Show TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0059 a0002c0022t0059	a0002c0022t0059g0043 a0002c0022t0059g0043	1	346	0.0029	-514	c.181 others(21): Show c.1811-13951_1811-13438del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF554_chr19_2814868_2841735	2818035	CCAAGGAT others(507): Show CCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG GTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGA TGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAA GGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGA TAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG03130.hp1 HG02257.hp2 HG02818.hp1 HG03130.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0011 a0001c0007 a0003c0011	a0001c0007t0020 a0003c0011t0042 a0001c0007t0020 a0003c0011t0042	a0001c0007t0020g0035 a0003c0011t0042g0216 a0001c0007t0020g0035 a0003c0011t0042g0216	3	410	0.0073	-514	c.-20 others(11): Show c.-2036_-1523del		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding					1832		chr19	TogoVar
CDC42EP4_chr17_73278624_73317001	73295819	TGCTTGAA others(506): Show TGCTTGAACCTGGGAGGCAGAGGTTGCAGCACACTGAGATCATGCCATTG CACTCCAGCCCAGGCGACAAGAGTGAAACTCCATCTCCAAAAAAAAAAAA AAAAGAATGATGGTTTTAAAATGAATATGATTCAGTTTCCTCAAATAATG GCTTTAAAATGAATGTGATTTAAATGAATATGATTTACCTCCTAGAACTT AACCCTGTGGAACTATTTCAAAGGCGAAAAAAGTCACACACGTATTTGTT GAAGCCTTATTCATAATAGCGAAAGACTGGAGACAGGCTAGTCGCAGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGACCACG ACGTCAGGAGTTTGAGACCAGCCTGACCAATATGGCGAAACCCTGTCTCT ACTAAAAATACAAAAAAAAAAAAAATTAAAAAATACATAAAAAAATAAAA TTAGCTGGGCCTGGTGGTGTGCGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02145.hp2 others(4): Show HG01884.hp2 HG02055.hp2 HG02145.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0094 a0001c0001t0001g0127 a0001c0001t0001g0128 others(4): Show a0001c0001t0001g0094 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0354 a0001c0001t0022g0142	7	408	0.0172	-513	c.-11 others(19): Show c.-112-9720_-112-9208del		CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding	1/1						chr17	TogoVar
DACT2_chr6_168301904_168324777	168317097	CTGGTGCA others(506): Show CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTT CCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACG CAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGC ACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCAT CTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTG TGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCAT GTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAA GCTGCGATTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	476	0.0021	-513	c.246 others(17): Show c.246+1778_246+2290del		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
HCN2_chr19_584881_622159	604040	GCAGGGGC others(506): Show GCAGGGGCGGGGCTATAATGGTGCATGGGTGGGGCCAAGGCAGCAGGGGT GGGGCTATGAGAGATCTGGGTGGGGTCAAGGCCCCAGGGGTGGGGCTATG GGAGATCTGGGTGGGGTCAAGGCCCCAGGGATGGGGCTATGAGAGATCTG AGTGGGGTCAAGGCCCCAGGGATGGGGCTATGAGAGATCTGGGTGGGGTC AAGGCCCCAGGGGTGGGGCTATGGGAGATCTGGGTGGGGTCAAGGCCCCA GGGATGGGGCTATGAGAGATCTGGGTGGGGTCAAGGCCCCAGGGGTGGGG CTATGAGGGTGCAGGGGTGGAGCTACAATGGTGCAGTGGTAGAGCCAAGA CAGCAGGGGTGGGGCTATCAGGTTGCTGAGCAGGGTCGAGGCAGCAGGGG CAGGGCTATGATGCTGCTGGGGTGGAGTCAAGCAGCAGGGGTGGGGCCGT GATATCTGGGTGGGGTCAAGGAGCAGGGGCAGGGCTGTGAGGGTGCTGGG CGGGGTCAAGGCAT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0001 a0002c0055t0001	a0002c0055t0001g0271 a0002c0055t0001g0271	1	408	0.0025	-513	c.105 others(16): Show c.1056+89_1057-493del		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
KANK1_chr9_499695_751103	707479	GTCCTGGA others(506): Show GTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTT TCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAA TGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTC CTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGC TTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTG CTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGT CTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGA GACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAG TCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTT CAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAAT GGAGTTTCAGACAT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 HG01884.hp1 others(5): Show HG01175.hp1 HG01361.hp1 HG01884.hp1 HG02109.hp2 HG02559.hp1 HG03041.hp2 NA18994.hp1 NA19005.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0017	a0001c0054 a0003c0003 a0008c0006 others(1): Show a0001c0054 a0003c0003 a0008c0006 a0017c0024	a0001c0054t0008 a0003c0003t0001 a0008c0006t0002 others(1): Show a0001c0054t0008 a0003c0003t0001 a0008c0006t0002 a0017c0024t0005	a0001c0054t0008g0077 a0003c0003t0001g0038 a0003c0003t0001g0049 others(5): Show a0001c0054t0008g0077 a0003c0003t0001g0038 a0003c0003t0001g0049 a0008c0006t0002g0060 a0008c0006t0002g0061 a0008c0006t0002g0067 a0008c0006t0002g0245 a0017c0024t0005g0090	8	254	0.0315	-513	c.38- others(15): Show c.38-3211_38-2699del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707697	GTTTCAGA others(506): Show GTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGG CTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACA GGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCT GGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGA CAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAG TTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTT AATGGAATTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTC TCCTGTTAATGGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19030.hp2 HG02572.hp2 NA19030.hp2	a0012 a0015 a0012 a0015	a0012c0009 a0015c0021 a0012c0009 a0015c0021	a0012c0009t0008 a0015c0021t0006 a0012c0009t0008 a0015c0021t0006	a0012c0009t0008g0233 a0015c0021t0006g0005 a0012c0009t0008g0233 a0015c0021t0006g0005	2	254	0.0079	-513	c.38- others(15): Show c.38-3050_38-2538del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
MPG_chr16_73225_90846	81684	ACACTGAC others(506): Show ACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTC CTGAATGCTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	442	0.0023	-513	c.301 others(16): Show c.301-1366_301-854del		MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC20_chr3_195715978_195738551	195725120	TCCTCAGA others(506): Show TCCTCAGAGAGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCC GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCA TCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCAT CCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTT CCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGC GCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGA GAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGG CCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCG TCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCAT CACCCCGTCACGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp2 HG00639.hp1 HG00735.hp1 others(48): Show HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02486.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 NA18942.hp1 NA18942.hp2 NA18949.hp2 NA18953.hp1 NA18971.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(14): Show a0001 a0002 a0004 a0007 a0012 a0018 a0021 a0022 a0031 a0032 a0033 a0034 a0035 a0040 a0041 a0047 a0051	a0001c0004 a0001c0058 a0001c0060 others(16): Show a0001c0004 a0001c0058 a0001c0060 a0002c0003 a0004c0006 a0007c0009 a0012c0015 a0018c0019 a0021c0025 a0022c0040 a0031c0053 a0032c0062 a0033c0059 a0034c0061 a0035c0063 a0040c0045 a0041c0046 a0047c0071 a0051c0042	a0001c0004t0001 a0001c0058t0001 a0001c0060t0001 others(16): Show a0001c0004t0001 a0001c0058t0001 a0001c0060t0001 a0002c0003t0001 a0004c0006t0002 a0007c0009t0002 a0012c0015t0001 a0018c0019t0002 a0021c0025t0002 a0022c0040t0001 a0031c0053t0001 a0032c0062t0001 a0033c0059t0001 a0034c0061t0001 a0035c0063t0001 a0040c0045t0005 a0041c0046t0005 a0047c0071t0002 a0051c0042t0002	a0001c0004t0001g0007 a0001c0004t0001g0015 a0001c0004t0001g0016 others(40): Show a0001c0004t0001g0007 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0058 a0001c0004t0001g0079 a0001c0004t0001g0087 a0001c0058t0001g0066 a0001c0060t0001g0007 a0002c0003t0001g0005 a0002c0003t0001g0059 a0002c0003t0001g0062 a0002c0003t0001g0067 a0002c0003t0001g0069 a0002c0003t0001g0076 a0002c0003t0001g0085 a0002c0003t0001g0093 a0004c0006t0002g0004 a0004c0006t0002g0105 a0004c0006t0002g0106 a0004c0006t0002g0110 a0007c0009t0002g0042 a0007c0009t0002g0046 a0007c0009t0002g0050 a0007c0009t0002g0051 a0007c0009t0002g0053 a0012c0015t0001g0013 a0012c0015t0001g0034 a0018c0019t0002g0052 a0018c0019t0002g0083 a0021c0025t0002g0022 a0021c0025t0002g0023 a0022c0040t0001g0036 a0031c0053t0001g0005 a0032c0062t0001g0068 a0033c0059t0001g0016 a0034c0061t0001g0005 a0035c0063t0001g0007 a0040c0045t0005g0094 a0041c0046t0005g0095 a0047c0071t0002g0004 a0051c0042t0002g0040	51	185	0.2757	-513	c.544 others(8): Show c.544_1056del	p.Ser others(13): Show p.Ser182_Asp352del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	574/2493	544/2130	182/709		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)