Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(556): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGC AGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGA GGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	322	0.0031	563	c.976 others(578): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(556): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGC AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGA GGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00735.hp1 others(37): Show HG00140.hp1 HG00544.hp1 HG00735.hp1 HG01081.hp2 HG01346.hp1 HG01358.hp2 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG03688.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp2 NA18977.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19063.hp1 NA19067.hp2 NA19084.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(37): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0322	40	322	0.1242	563	c.976 others(578): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(556): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGC AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGA GGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG03710.hp1 HG01516.hp1 HG01517.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0317	3	322	0.0093	563	c.976 others(578): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(556): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCCGGGGGGTCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGC AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGA GGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGTCCC CCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	322	0.0031	563	c.976 others(578): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGACTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGACCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(556): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCCTCTCTTCCTCCTCTCCTCCT CTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCG CGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCTCC TTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCT CCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTC CTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTC CTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0071 a0001c0001t0070 a0001c0001t0071	a0001c0001t0070g0203 a0001c0001t0071g0215 a0001c0001t0070g0203 a0001c0001t0071g0215	2	234	0.0086	563	c.489 others(582): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCCTC TCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCTTCTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTC CTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCC TTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCT CCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(556): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATCATATATCATATATATCATATATATCATATATCATATATATCATAT ATATCATATATATCATATATCATATATATCATATATCATATATATCATAT ATATCATATATATTATATATCATATATCATATATATCATATATATTATAT ATCATATATCATATATATCATATATATTATATATCATATATCATATATAT CATATATATTATATATCATATATCATATATATCATATATATTATATATCA TATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0046 a0003c0006t0004g0046	1	236	0.0042	563	c.-22 others(574): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATAATATATATGATATATATGATATATGATAT ATAATATATATGATATATATGATATATGATATATAATATATATGATATAT ATGATATATGATATATAATATATATGATATATATGATATATATGATATAT GATATATATGATATATGATATATATGATATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT ATGATATATATGATATATATGATATATATGATATATGATATATATAATAT ATGATATATATGATATATGTGATATATGATATATATGATATATGTGATAT ATGTGATATATGATATATGTGATATATGTGATATATGATATATGTGATAT ATGTGATATATGATATATGTGATATATGATAATGATATGATATATATGAT ATGATATATATGATAGATCATATATGATCTCATATATATGATATATATGA TATAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(556): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	188	0.0053	563	c.109 others(584): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(556): Show AACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACA CCACCCCAACACCACCCCAACACCATCCCCAACACCCCAATAACCCCCCA ACACCACCAACACCACCACAACACCATCCCCAACACCACCCCCAATACCA CCCCCACCACCCCCACACCACCCCAACACCACCCAACACCATCCCCCACA CCACCCCCACCACCACCCCCACACCGCCCCCAACACCACCCCCCACACCA CCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCC CAACACCACCCCCAACACCATCCCCAACACCACCCCCAATACCACCCCCA CACCACCCCCATCGCCCCCACACCGCCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACATCACCCCCACCACCCCCACACCACCCCCACA CCACCCCCAACACCATCCCCAACACCAGCCCCAACACCACCCCCCAACAC CAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACC CAACACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	106	0.0094	563	c.27 others(574): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCACCCCAACACCACCCCAACACCATCCCCAACAC CCCAATAACCCCCCAACACCACCAACACCACCACAACACCATCCCCAACA CCACCCCCAATACCACCCCCACCACCCCCACACCACCCCAACACCACCCA ACACCATCCCCCACACCACCCCCACCACCACCCCCACACCGCCCCCAACA CCACCCCCCACACCACCCCCAACACCACCCCCAACACCAGCCCCAACACC ACCCCAATACCTCCCCAACACCACCCCCAACACCATCCCCAACACCACCC CCAATACCACCCCCACACCACCCCCATCGCCCCCACACCGCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACATCACCCCCACCACCCC CACACCACCCCCACACCACCCCCAACACCATCCCCAACACCAGCCCCAAC ACCACCCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACC ACCCCCAACACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
HNF1A_chr12_120973543_121007512	120987987	G G	GTCCATCC others(556): Show GTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATC CATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCAC CAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTA CCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATC CATCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAA CCATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCA TCCATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCC ACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATC TACCCACCCACCCACCAATCCATCCATCCATCCAACCATCCATCCATCCA TCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACC ATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATC CATTCATCCAACCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	410	0.0024	563	c.327 others(578): Show c.327-762_327-761insTACCCACCCACCCACCAATCCATCCATCCA TTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCA ATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACC CACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCA TCATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACC ATCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATC CATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCAC CAATCCATCCATCCATCCAACCATCCATCCATCCATCATCCATCTACCCA CCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCATC ATCCATCTACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCAT CCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATCCA TTCATCCAACCATCCATCCATCCATCATCCATC	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(556): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGG AAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGA GCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACA GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAA GCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGA GAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG00544.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0093 a0001c0001t0091 a0001c0001t0093	a0001c0001t0091g0093 a0001c0001t0093g0118 a0001c0001t0091g0093 a0001c0001t0093g0118	2	362	0.0055	563	c.968 others(578): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(556): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAA GCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGA GAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	362	0.0028	563	c.968 others(578): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACC TGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTG TGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(556): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	330	0.0030	563	c.267 others(582): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(556): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0117 a0002c0003t0001g0117	1	308	0.0033	563	c.127 others(582): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(556): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCC CCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGC CCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGC TGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	312	0.0032	563	c.-41 others(578): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGC CCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCG CCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAG CTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(556): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTAACACACCTCC TTCAAACACACACCCTCCAAACACACACACCTCCTTCAAGCACACACACA CCTCCAAACACACACACACCTAACACACACCTCCTCCAAGCACACACACA CCTCCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACATC TCCAAACACACACACACAGCTAACACACACCTTCTTCAAACACACACACA CCCCTCCAAACACACACACACACACCTCCTTCAAACACACACACCCTCCA AACACACACACCTCCTTCAAACACACACACACACCTCCAAAGACACACAC ACACCTAACACACACCTTCAAACACACACACACCTCCAAACACACACACA CCTAACACACACCTCCTCCAAACACACACACACCTCCACACACATACCTA ACACACACCTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(23): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG02451.hp2 HG02615.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03654.hp2 NA18944.hp1 NA18952.hp1 NA18963.hp2 NA18980.hp1 NA18982.hp1 NA18998.hp1 NA19007.hp2 NA19085.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004 a0004c0003 a0014c0022	a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 others(7): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0006t0003 a0003c0004t0001 a0003c0004t0004 a0004c0003t0002 a0004c0003t0003 a0014c0022t0003	a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0070 others(23): Show a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0080 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0003g0015 a0002c0002t0003g0061 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0069 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0088 a0002c0002t0006g0086 a0002c0006t0003g0083 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0004g0064 a0004c0003t0002g0111 a0004c0003t0003g0066 a0004c0003t0003g0079 a0004c0003t0003g0082 a0014c0022t0003g0059	26	262	0.0992	563	c.212 others(582): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTAACACACCTCCTTCAAACACACACCCTCCAAACACACACA CCTCCTTCAAGCACACACACACCTCCAAACACACACACACCTAACACACA CCTCCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACACG CCTCCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACACA CCTTCTTCAAACACACACACACCCCTCCAAACACACACACACACACCTCC TTCAAACACACACACCCTCCAAACACACACACCTCCTTCAAACACACACA CACACCTCCAAAGACACACACACACCTAACACACACCTTCAAACACACAC ACACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACAC ACACCTCCACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205410	C C	CCAGCACA others(556): Show CCAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTAACACACCTCC TTCAAACACACACCCTCCAAACACACACACCTCCTTCAAGCACACACACA CCTCCAAACACACACACACCTAACACACACCTCCTCCAAGCACACACACA CCTCCAAACACACACACACCCAACACACGCCTCCTTCAAACACACACATC TCCAAACACACACACACAGCTAACACACACCTTCTTCAAACACACACACA CCCCTCCAAACACACACACACACACCTCCTTCAAACACACACACCCTCCA AACACACACACCTCCTTCAAACACACACACACACCTCCAAAGACACACAC ACACCTAACACACACTTTCAAACACACACACACCTCCAAACACACACACA CCTAACACACACCTCCTCCAAACACACACACACCTCCACACACATACCTA ACACACACCTCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0089 a0002c0002t0003g0089	1	262	0.0038	563	c.212 others(582): Show c.212+11211_212+11212insGCACACACACCTAACACACACCTCCT TCAAACACACACCTCCACACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTAACACACCTCCTTCAAACACACACCCTCCAAACACACACA CCTCCTTCAAGCACACACACACCTCCAAACACACACACACCTAACACACA CCTCCTCCAAGCACACACACACCTCCAAACACACACACACCCAACACACG CCTCCTTCAAACACACACATCTCCAAACACACACACACAGCTAACACACA CCTTCTTCAAACACACACACACCCCTCCAAACACACACACACACACCTCC TTCAAACACACACACCCTCCAAACACACACACCTCCTTCAAACACACACA CACACCTCCAAAGACACACACACACCTAACACACACTTTCAAACACACAC ACACCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACAC ACACCTCCACACACATACCTAACACACACCTCCTTCA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTATAT others(556): Show ATTTATATATATATATTTATATATATTTATATATATATTTTTATATATAT TTATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATAT ATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAGTTATATAT ATAGTTATATATAGTTATATATATAGTTATATATATATTTTTATATATAT TTATATATATATATTTTTATATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATAAAT ATATATATAAATATATATATTTATATATATATTTATATATTTATATATGT ATTTATATATATTTATATATGTATTTATATATATTTATATATATTTATAT ATATAAATATAAATATATTTATATATATAAATATAAATATATTTATATAT ATAAATATAAATATATTTATATATATAAATATAAATATATTTATATATAT AAATATAAATATATTTATATATAAATATATTTATATATATTTATATAAAT ATATTTATGTATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	260	0.0039	563	c.125 others(580): Show c.125+9624_125+9625insTATATATATATATTTATATATATTTATA TATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATA TTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATA GTTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTATA TATATATTTTTATATATATTTATATATATATATTTTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATAAATATATATATAAATATATATATTTATATATATA TTTATATATTTATATATGTATTTATATATATTTATATATGTATTTATATA TATTTATATATATTTATATATATAAATATAAATATATTTATATATATAAA TATAAATATATTTATATATATAAATATAAATATATTTATATATATAAATA TAAATATATTTATATATATAAATATAAATATATTTATATATAAATATATT TATATATATTTATATAAATATATTTATGTATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507011	C C	CGGGGGGG others(556): Show CGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTG GGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGG GGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGT AGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGA CAGGATTTCAGGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	260	0.0039	563	c.624 others(580): Show c.624+8889_624+8890insGTAGGGAGGATTTCAGGTGGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACA GGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATT TCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTC AGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(556): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGG GGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	563	c.-43 others(574): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGG TGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LY75_chr2_159798355_159909756	159874324	G G	GTAAATAT others(556): Show GTAAATATATATAAATATATATATGTTTTGTAAATATATATAAATATATA TGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATA TATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATA AATATATATTTTGTAAATATATATATTTTGTAAATATATATTGTAAATAT ATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATAT ATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATATA TATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAAT ATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAA ATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAAA ATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATAT ATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATATAAAT ATATACATATTTTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01261.hp1 others(12): Show HG01168.hp1 HG01169.hp2 HG01261.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03471.hp2	a0004 a0009 a0013 others(4): Show a0004 a0009 a0013 a0019 a0028 a0040 a0041	a0004c0005 a0004c0010 a0009c0012 others(5): Show a0004c0005 a0004c0010 a0009c0012 a0013c0018 a0019c0020 a0028c0032 a0040c0048 a0041c0049	a0004c0005t0001 a0004c0010t0011 a0009c0012t0001 others(6): Show a0004c0005t0001 a0004c0010t0011 a0009c0012t0001 a0013c0018t0001 a0013c0018t0004 a0019c0020t0001 a0028c0032t0008 a0040c0048t0001 a0041c0049t0001	a0004c0005t0001g0226 a0004c0005t0001g0229 a0004c0010t0011g0222 others(12): Show a0004c0005t0001g0226 a0004c0005t0001g0229 a0004c0010t0011g0222 a0009c0012t0001g0219 a0009c0012t0001g0227 a0009c0012t0001g0228 a0009c0012t0001g0231 a0009c0012t0001g0244 a0013c0018t0001g0125 a0013c0018t0001g0217 a0013c0018t0004g0221 a0019c0020t0001g0132 a0028c0032t0008g0034 a0040c0048t0001g0216 a0041c0049t0001g0224	15	330	0.0455	563	c.197 others(582): Show c.1974+1119_1974+1120insTAAAATATGTATATATTTATATATTT ACAAAATATGTATATATTTATATATATTTACAAAATATATATATATTTAC AAAATATATATATTTATATATTTACAAAATATATATATTTTTATATATTT ACAACATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTT ACAAAATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATA TATATACATATTTACAAAATATATATATTTACAAAATATATATACATATT TACAAAATATATATATTTACTATATATATTTACAAAATATATATATAATT TACAATATATATATAATTCACAAAATATATATTTATATATATTTACAATA TATATTTACAAAATATATATATTTACAAAATATATATTTATATATTTACA AAACATATATATATTTATATATATTTACAAAACATATATATTTATATATA TTTACAAAACATATATATTTATATATATTTACAAAACATATATATTTATA TATATTTACAAAACATATATATATTTATATATATTTA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(556): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAA TTTATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTA TATAAATATATAAC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0001 a0011c0029t0001	a0011c0029t0001g0097 a0011c0029t0001g0097	1	152	0.0066	563	c.342 others(582): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAACTATAATTTATATAAATATATAACTATAAT TTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSR1_chr8_16102881_16197651	16189584	A A	ATATATAT others(556): Show ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATTTTATATACATAAAATCTTATTTTATAT ATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACATAAA ATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTATATATAT TTTATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCT TATTTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTA TATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTAT ATATATTTTATATATAAAATCTTATTTTATATATATTTTATATATATTTT ATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT TATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATAT ATAAAATCTTACTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	330	0.0030	563	c.-5+ others(578): Show c.-5+3013_-5+3014insAAGTAAGATTTTATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGATTTTATATATAT AAAATATATATAAAGATTTTATATATATAAAATATATATAAAGATTTTAT ATATATAAAATATATATAAAGATTTTATATATATAAAATATATATAAAAT ATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTA TATATAAAATATATATAAAATAAGATTTTATATATAAAATATATATAAAA TAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATA AAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAG ATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAAT ATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTT TATGTATATAAAATATATATAAAATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(556): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATATATCATATATAAAAATTTATATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0014 a0001c0007t0002g0014	1	350	0.0029	563	c.-28 others(574): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAA ATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(556): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC TGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATAC ACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACAC AGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGT ATACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATG CAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATAT ACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTAT ATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	362	0.0028	563	c.-75 others(582): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACATACAGTATACATACAT ACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTATAC AGTATACATGCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(556): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGG GAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0290 a0001c0002t0005g0290	1	356	0.0028	563	c.91+ others(576): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(556): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCA ATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCG GGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	324	0.0031	563	c.140 others(580): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(556): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCATCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0009 a0009	a0009c0057 a0009c0057	a0009c0057t0029 a0009c0057t0029	a0009c0057t0029g0179 a0009c0057t0029g0179	1	324	0.0031	563	c.140 others(580): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGATG GATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(556): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0075 a0001c0001t0015g0075	1	326	0.0031	563	c.433 others(580): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(556): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGG AGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGG GAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGG GAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGA GGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAG ATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGG GAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGA GAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGA GAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0320 a0001c0005t0009g0320	1	386	0.0026	563	c.92 others(574): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCC TCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCT CTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCCTCCCCTCCCTCTC CCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCT CCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCC TCCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NXN_chr17_794310_984776	949544	C C	CCGGCCTC others(556): Show CCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCG CGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG02109.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0027 a0001c0003t0001 a0001c0001t0027 a0001c0003t0001	a0001c0001t0027g0010 a0001c0003t0001g0042 a0001c0001t0027g0010 a0001c0003t0001g0042	2	242	0.0083	563	c.360 others(582): Show c.360+29774_360+29775insCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGG AGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811210	C C	CCCTTCCT others(556): Show CCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCT ACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTTCCTTCCCTT CCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	178	0.0056	563	c.773 others(578): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTC CTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PJA2_chr5_109329722_109414974	109353926	T T	TATCAAGA others(556): Show TATCAAGAGATGTCTATAGATTAGATATCTATATCTAGAGATGTCTATAG ATTAGATATCTATGATATCTAGAGATGTCTATAGAGTAGATATCTATGAT GTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATATCTAT AGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCTATG ATGTCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGTATCTATAGATTAGATATCTATGCTATCTAGAGATATC TATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATATCT GTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATATCT ATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATAT CTATAGATTAGATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0071 a0003c0003t0002g0071	1	346	0.0029	563	c.176 others(582): Show c.1764+1988_1764+1989insTATCTAATCTATAGATATCTCTAGAT ATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGATATCTAAT CTATAGATATCTCTAGATATCATAGATATCCAATCTATAGATATCTCTAG ATATAGATATCCAATCTATAGATATCTCTAGATATCACAGATATCTAATC TATAGATATCTCTAGATAGCATAGATATCTAATCTATAGATATCTCTAGA TAGCATAGATATCTAATCTATAGATACTCTAGATATCATAGATATCTAAT CTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATCTA ATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATCTCT AGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGATATC TACTCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACATCT CTAGATATAGATATCTAATCTATAGACATCTCTTGAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397540	G G	GGGGGGCG others(556): Show GGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGC CCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCTGTCCTCACCAG CCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0280 a0001c0017t0011g0280	1	340	0.0029	563	c.227 others(580): Show c.227+3411_227+3412insGGGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGG CCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCAGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(556): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTG AGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp2 HG02698.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0140 a0002c0004t0013g0141 a0002c0004t0013g0140 a0002c0004t0013g0141	2	340	0.0059	563	c.227 others(580): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCT CACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(556): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGG TGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACC AGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	323	0.0031	563	c.405 others(580): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGGCAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCG GGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCC GGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGC CCACGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(556): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAAT GGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATG ATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGA TGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	374	0.0027	563	c.-46 others(574): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTG ATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGAT GGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGT GATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGA TGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RC3H2_chr9_122839556_122910359	122867261	G G	GCCCCGTC others(556): Show GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCAGCCAGCCGCTCCGTCCGGGAGGGAGGTTG GGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGTCCAGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGATGTGAGGGGCG CCTCTGCCCGGCCGCCTATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGAAGCGTCTGCCCGGCCGCCATCCCATCTA GGAAGTGAGGAGCGTCTCTGCCCGGCCACCCATTGTCTGAGATGTGGGGA GCGCCTTTGCCCCACCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTG GCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCGT CTGAGAAGGGAGGAGACCCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTG AGGAGCCCCTCCGCCCGGCAGCCGGCCCATCTGAGAAGTGAGGAGCGTCT CCGCCCGGCAGCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0300 a0001c0002t0002g0300	1	320	0.0031	563	c.132 others(582): Show c.1326-1605_1326-1604insTGGCTGCCGGGCGGAGACGCTCCTCA CTTCTCAGATGGGCCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGAC GGGGCGGTTGCCGGGCGGAGGGTCTCCTCCCTTCTCAGACGGGGCGGCTG GGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCAGGCAGAGGCG CTCCTCACATCCCAGACGGGGCGGTGGGGCAAAGGCGCTCCCCACATCTC AGACAATGGGTGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGG CGGCCGGGCAGACGCTTCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACGTCCCAGACGATAGGCGGCCGGGCAGAGGCGCCCCTCACAT CCCCGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCAACCTCCCTCC CGGACGGAGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG TGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(556): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGG GGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0092 a0005c0010t0001g0092	1	412	0.0024	563	c.205 others(578): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCAC CGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACGCCGACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(556): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGAGGGGAGGGGGGAGGGGG AGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGGAGGAG GGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	318	0.0031	563	c.36 others(574): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGAGG GGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGG GAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGG AGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGA GGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGG GGACGGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(556): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGGA GGGGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGG AAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGG GGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGA GGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGGAGGAG GGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGG GAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGGACGGGGGAGGA GGGGAGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0014 a0003c0004t0001g0014	1	318	0.0031	563	c.36 others(574): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGGAGGGGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGG GGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGGG AGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGG GGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGAGGGGAAGGGGAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGGACGGGGGAGGAGGGGAGGGGGGAGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(556): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	308	0.0033	563	c.-75 others(582): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATAAACTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATAAATAAATATATATTTAT AAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATAT TTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATAT ATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAA ATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATAT ATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(556): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATAT TTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	308	0.0033	563	c.-75 others(582): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATAAACTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATAAATAAATATATATTTAT AAACTAAATAAATAAATATATATTTATAAACTAAATATATAAATATATAT TTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATAT ATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAA ATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATAT ATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMD11_chr1_918923_949574	934213	G G	GGCTGCGT others(556): Show GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGAGGCAGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGT GGGCGGGGGGGGCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	434	0.0023	563	c.843 others(580): Show c.843-1556_843-1555insGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGAGGCAGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATGC others(556): Show CTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTC TACCCCCCACAAGCATAGCTCCAACCCTCCCCTACTCTCCTCACTCTATC CCCCCACAAGCATCACTCCAGCCCTCCCCCATTCTCCTCACTCTATCCCC CCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACA AGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAG CATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATA GCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGC TCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCA ACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAAC CCTCCCCCACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTC CCCCACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0015 a0001c0004t0016g0015	1	280	0.0036	563	c.89- others(576): Show c.89-443_89-442insATGAGGAGAGTGGGGGGAGGGTTGGAGCTATG CTTGTGGGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCT TGGGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGG GGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAG AATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAAT GAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGG AGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGA ATGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTA GGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGG AGGGTTGGAGCAATGCTTGTGGGGGCATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(556): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTCTTCCCTCCC TCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTT CCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCC TCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTT CCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCC TCCTTTACTTGCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0024 a0001c0025t0024	a0001c0025t0024g0088 a0001c0025t0024g0088	1	116	0.0086	563	c.332 others(582): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT TCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTCTTCCCTCCCTC CTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCC TCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTC CTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCC TCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTC CTTTACTTGCTCCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SIGIRR_chr11_400716_419999	412565	G G	GGGGGGGG others(556): Show GGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGGAGGGG TGCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGGTGCCCAGC TCTGACCATGTCTGGATTGCAGTCGGGGGGGGGTGCTCAGCTCTGACCAT GTCCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATAC AGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGTG GGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGCCCAG CTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTC TGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTTCTGGATGCAG TCGGCGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGG GGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCT GACCATGTCTGGATACAGTCGGGCGGGGGGGGGTGCTCAGCTCTGACCAT GTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0225 a0003c0015t0001g0225	1	242	0.0041	563	c.-15 others(582): Show c.-154+2257_-154+2258insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCAC CCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGAC TGCATTCAGACATGGTCAGAGCTGGGCACCCCCGCCGACTGCATCCAGAA CATGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGA GCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCT CCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCACCCCGACTGT ATCCAGACATGGTCAGAGCTGGGCACCTCCCCCCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCTCCCCCGACTGCATCCAGGACATGGTCAGAGCT GAGCACCCCCCCCCGACTGCAATCCAGACATGGTCAGAGCTGGGCACCCC CCCCCCCGACTGTATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCCGA CTGTATCCAGACATGTTCAGAGCTGGGCACCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(556): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATAATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATAATATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAAAATATTATATTTTATAATATATAAAATATTATATTTTATAA TATATAAAATATATTATATTTTATAATATATAAAATATATTATATTTTAT AATATATAATATATATTATATTTTATAATATATAATATATATTATATTTT ATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp1 NA18612.hp1 HG02040.hp2 HG02155.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0052	3	340	0.0088	563	c.17 others(582): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATTATATATTATAATATATAATATATTATATAT TATAATATATAATATATTATATATTATAATATATTATATATTATATATTA TAATATATTATATATTATATATTATAAAATATAATATATTATATATTATA AAATATAATATATTATATATTATAAAATATAATATATTATATATTATAAA ATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAAT ATAATATATTATATATTATAAAATATAATATATATTATATATTATAAAAT ATAATATATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1346222	C C	CCCCTGTT others(556): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTCCCCTGTTCTGG GCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGA CTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTT TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0100 a0003c0008t0001g0100	1	190	0.0053	563	c.148 others(584): Show c.1489-21118_1489-21117insTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTCGCACTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827118	T T	CATATATT others(556): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATA ATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	302	0.0033	563	c.12+ others(575): Show c.12+3672delTinsCATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AAATATATTATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(556): Show AAGGGGAAGGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGG GGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGG GGGAAGGGGGAGGGGGGAAGCGGGAACGGGGGAGGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGG AGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGG GGGAGGGGGAAGGGGGAGGGGGGAAGCGGGAACGGGGGAGGGGAGATGGG GAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGG GAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGGA GGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGGAACGGGGGAGGGGAGATG GGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAAGGGGGAGGGGGAACGGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0149 a0001c0001t0013g0149	1	251	0.0040	563	c.34 others(572): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCC GCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCC CGCTTCCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCCTTCCCCCTCCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCC CGTTCCCGCTTCCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCT CCCCCTCCCCCTCCCCCTCCCACCTCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCCTCCCCCTTCCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar

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Search Results (Total: 10000 hits)