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
LSS_chr21_46183446_46233774	46184617	C C	CCAACCCA others(2020): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGCACCCACCACCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC AACAACCCAGTGGGCCAGCCACACCTCCAGCCCTGTGATGGGTACTCAGG ACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCA CCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGG GTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCC CTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCA GCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAA CCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCAC CAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGAC CACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATG GGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGC CCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACC TCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACC CAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCA GGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0123 a0001c0006t0010g0123	1	358	0.0028	2027	c.64 others(2038): Show c.6486_*6487insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTA CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGT TGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTG AGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTG GTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTG GTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG TTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCA CAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCG TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAG TACCCATCACAGGGCTGGAGGTGTGGCTGGCCCACTGGGTTGTTGGTGGT CCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTT GGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCAC TGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCG GCCCACTGGGTTGGTGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3828		chr21	TogoVar
PRR20G_chr3_127278783_127293046	127289915	T T	TATACATA others(2020): Show TATACATATTTATATATTTTATATATAGTTATATAACTATATATTTTATA TATAGTTATATAACTATATATTTTATATATAGTTATATAACTATATATTT TATATATATAGTTTATATATAGTTATATAACTATATATAAAATATATAGT TATATATATATTTTATATATAGTTATATATATATTTTATATATAGTTATA TATATATTTTATATATAGTTATATAAATATATATTTTATATATAGTTATA TAAATATATATTTTATATATAGTTATATAAATATATATTTTATATATAGT TATATAAATATATATTTTATATATAGTTATATAAAATATATTTTATATAG TTATATAAAATATATTTTATATAGTTATATTCATATATATTTTATATAGT TATATTCATATATATTTTATATATATTCATATATATTTTATATATATTTA TATACTATATATTTTATATATAGTATATAAATATATATTTATATATAGTT ATATAAATATATATTTATATATAGTTATATAAATATATATTTTATATTTA TATATTTTAATATATTATATATTTATATATATTTTAATATATTATATATT TATATATAATATATTTTAATATATTATACATTTATATAAAATATATTTCA ATATATTATACATTTATATAAAATATATTTCAATATATTATACATTTATA TAAAATATATTTCAATATATTATATATTTATATAAAATATATTTCAATAT ATTATATATTTATGTAAAATATATTTCAATATATTATATATTTATGTATA TTTTAATATATTATATATTTATGTATATTTTAATATATTATATATTTATG TATATTTTAATATATTATATATTTATGTATATTTTAATATATTATATATT TATGTATATTTTAATATATTATATATTTATGTATATTTTAATATATTATA TATTTATGTATATTTTAATATATTATATATTTATGTATATTTTAATATAT TATATATTTATGTATAATATATTTTAATATATTATATATTTATGTATATT TTAATATATTATATATTTATGTATATTTTAATATATTATATATTTATGTA TATTTTAATATATTATATATTTATGTATATTTTAATATATTATATATTTA TGTATAATATATTTTAATATATTATATATTTATGTATATTTTAATATATT ATATATTTATGTATAATATATTTTAATATATTATATATTTATGTATAATA TATTTTAATATATTATATATTTATGTATTATATATTTTAATATATTATAT ATTTATGTATTATATATTTTAATATATTATATATTTATGTATTATATATT TTAATATGTTATATATTTATGTATTATATATTAATATATTATATATTTAT GTATTATATATTTTAATATATTATATATTTATGTATTATATTTAAGATAT TATATATTTATGTATTATATATTTAAGATATTATATATTTATGTATTATA TATTTAATATATTATATATTTATGTATTATATATTTTAATATATTTATGT ATTATATATTTTAATATATTATATATTGTATATATTATATATTTTAATAT ATTATATATTGTATATATTATATATATTTATATATTACATTACTTATACA CTATATATATATGTGTGTGTGTATATATATATACACACACACATATATAT AGTGTATAAGTAATGTAATTCCAGTTAGGCTCTCAATTTGTTTGTTGTTG TTGCTTTTGTTTTTAAAAAAATCAACTTCATTGAGGTACAATTTACACAC AGTAAAATGCATCCATTTGAAGTACCCAATTTGATGAGTTTTGATAAACT TGTAGACTTGGGTAACCACTCCCACAGTTAAAATACAGAATAATTTCATC ACTGGGCCAGCTCCCTTGCGTCCTTTAGCAGTCAGCCCCCTTCCCCTATC CTCTGCCCCAGCAACCACTGATCTGCTTTTTATCTCTACAGATTATTTTT GCTTGTTCTAGGATTTCACATAAATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19090.hp1 NA18947.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	2	432	0.0046	2027	c.-20 others(2038): Show c.-2045_-2044insTCCATTTATGTGAAATCCTAGAACAAGCAAAAAT AATCTGTAGAGATAAAAAGCAGATCAGTGGTTGCTGGGGCAGAGGATAGG GGAAGGGGGCTGACTGCTAAAGGACGCAAGGGAGCTGGCCCAGTGATGAA ATTATTCTGTATTTTAACTGTGGGAGTGGTTACCCAAGTCTACAAGTTTA TCAAAACTCATCAAATTGGGTACTTCAAATGGATGCATTTTACTGTGTGT AAATTGTACCTCAATGAAGTTGATTTTTTTAAAAACAAAAGCAACAACAA CAAACAAATTGAGAGCCTAACTGGAATTACATTACTTATACACTATATAT ATGTGTGTGTGTATATATATATACACACACACATATATATATAGTGTATA AGTAATGTAATATATAAATATATATAATATATACAATATATAATATATTA AAATATATAATATATACAATATATAATATATTAAAATATATAATACATAA ATATATTAAAATATATAATACATAAATATATAATATATTAAATATATAAT ACATAAATATATAATATCTTAAATATATAATACATAAATATATAATATCT TAAATATAATACATAAATATATAATATATTAAAATATATAATACATAAAT ATATAATATATTAATATATAATACATAAATATATAACATATTAAAATATA TAATACATAAATATATAATATATTAAAATATATAATACATAAATATATAA TATATTAAAATATATAATACATAAATATATAATATATTAAAATATATTAT ACATAAATATATAATATATTAAAATATATTATACATAAATATATAATATA TTAAAATATACATAAATATATAATATATTAAAATATATTATACATAAATA TATAATATATTAAAATATACATAAATATATAATATATTAAAATATACATA AATATATAATATATTAAAATATACATAAATATATAATATATTAAAATATA CATAAATATATAATATATTAAAATATATTATACATAAATATATAATATAT TAAAATATACATAAATATATAATATATTAAAATATACATAAATATATAAT ATATTAAAATATACATAAATATATAATATATTAAAATATACATAAATATA TAATATATTAAAATATACATAAATATATAATATATTAAAATATACATAAA TATATAATATATTAAAATATACATAAATATATAATATATTAAAATATACA TAAATATATAATATATTGAAATATATTTTACATAAATATATAATATATTG AAATATATTTTATATAAATATATAATATATTGAAATATATTTTATATAAA TGTATAATATATTGAAATATATTTTATATAAATGTATAATATATTGAAAT ATATTTTATATAAATGTATAATATATTAAAATATATTATATATAAATATA TAATATATTAAAATATATATAAATATATAATATATTAAAATATATAAATA TAAAATATATATTTATATAACTATATATAAATATATATTTATATAACTAT ATATAAATATATATTTATATACTATATATAAAATATATAGTATATAAATA TATATAAAATATATATGAATATATATAAAATATATATGAATATAACTATA TAAAATATATATGAATATAACTATATAAAATATATTTTATATAACTATAT AAAATATATTTTATATAACTATATATAAAATATATATTTATATAACTATA TATAAAATATATATTTATATAACTATATATAAAATATATATTTATATAAC TATATATAAAATATATATTTATATAACTATATATAAAATATATATATAAC TATATATAAAATATATATATAACTATATATAAAATATATATATAACTATA TATTTTATATATAGTTATATAACTATATATAAACTATATATATAAAATAT ATAGTTATATAACTATATATAAAATATATAGTTATATAACTATATATAAA ATATATAGTTATATAACTATATATAAAATATATAAATATGTAT	PRR20G	ENSG00000239620.3	transcript	ENST00000465482.3	protein_coding		1870		chr3	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(2020): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATAT TATTATAAAATAAATTATCTTTATATTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTTTATTATTATAAAATAAATTATCTTTTTATTATTAT AAAATAAATTATCTTTTTATTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0020 a0020	a0020c0045 a0020c0045	a0020c0045t0001 a0020c0045t0001	a0020c0045t0001g0332 a0020c0045t0001g0332	1	334	0.0030	2027	c.45- others(2042): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATATTATTATAAAATAAATTATCTTTATATTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTTTATTATTATAAAATAAATTATC TTTTTATTATTATAAAATAAATTATCTTTTTATTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATC1L_chr21_46156160_46189459	46184617	C C	CCAACCCA others(2020): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGCACCCACCACCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC AACAACCCAGTGGGCCAGCCACACCTCCAGCCCTGTGATGGGTACTCAGG ACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCA CCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGG GTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCC CTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCA GCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAA CCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCAC CAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGAC CACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATG GGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGC CCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACC TCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACC CAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCA GGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGTACTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0034 a0001c0001t0016g0034	1	251	0.0040	2027	c.-12 others(2038): Show c.-1221_-1220insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTA CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGT TGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTG AGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTG GTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTG GTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG TTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCA CAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCG TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAG TACCCATCACAGGGCTGGAGGTGTGGCTGGCCCACTGGGTTGTTGGTGGT CCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTT GGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCAC TGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCG GCCCACTGGGTTGGTGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		159		chr21	TogoVar
UCKL1_chr20_63934829_63961416	63948630	G G	GAGGGGTG others(2020): Show GAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGG GCGTGTGTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGAGTGGGGGCGTGTG TGAGGGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGTAGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGG CAGGGGCGTGTGTGGGGGGGGCGTGTGTGAGGGGGGGGGCGTGTGTGAGA GGGAGGGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTG TGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGG GGTGTGTGTGAGAGTGGGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGG CGTGTGTGAGAGGGAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTG TGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGTGGGGGC GTGTGTGGGGGGGCGTGTGTGAGGGGGGGCGTGTGTGAGAGGTAGGGGCG TGTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGCAG GGGCGTGTGTGGGGGGGGGCGTGTGTGAGGGGGGGGGCGTGTGTGAGAGG GAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGT GTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGGGGGGGGCG TGTGTGAGGGGGGGCGTGTGAGAGGGAGGGGCGTGTGTGGGGAGGGGCGT GTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGG AGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGTGTGTGTG AGAGTGGGGGCGTGTGTGAGAGTTAGGGGCGTGAGAGGTAGGGGCGTGTG TGAGAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGC GTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGCGAGAGGGAGGGGCGTGTG TGAGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGG GCGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGTGAG GGAGGGGCGTGAGAGGGAGGGGCGTGTGTGAGGGGGGGCGTGTGTGAGAG GTAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGT GTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAG GGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTG AGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGC GTGTGTGAGAGTGGGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGGCGT GTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGG AGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGCGTGTGTGAGAGTGGGGG CGTGTGTGAGAGGGGCGTGAGAGGTAGGGGCGTGTGTGAGAGGGAGGGGG CGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAG GGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGA GAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAAGGGG CGTGTGAGAGGGAGGGGCGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	356	0.0028	2027	c.114 others(2044): Show c.114-1988_114-1987insTCTCACACACGCCCCTCCCTCTCACACG CCCCTTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTC TCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACG CCCCCTCCCTCTCACACACGCCCCTACCTCTCACGCCCCTCTCACACACG CCCCCACTCTCACACACGCCCCTCCCTTCACACACGCCCCTCCCTCTCAC ACACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACAC ACGCCCCTACCTCTCACGCCCCTCTCACACACGCCCCCACTCTCACACAC GCCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCT CACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTCTCACAC ACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTAC CTCTCACACACGCCCCCCCTCACACACGCCCCTCCCTCTCACGCCCCTCC CTCACACACACGCCCCTGCCTCTCACACACGCCCCCTCCCTCTCACACGC CCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCA CACACGCCCCTCCCTCTCGCACACGCCCCCTCCCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACAC GCCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTCTCA CACACGCCCCTACCTCTCACGCCCCTAACTCTCACACACGCCCCCACTCT CACACACACCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACAC ACGCCCCTCCCCACACACGCCCCTCCCTCTCACACGCCCCCCCTCACACA CGCCCCCCCCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCAC ACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTC CCTCTCACACACGCCCCCCCCCTCACACACGCCCCCCCCCACACACGCCC CTGCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTCTCACACA CGCCCCTACCTCTCACACACGCCCCCCCTCACACACGCCCCCCCACACAC GCCCCCACTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCA CACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACACACCCCTCCCTCTCACACACG CCCCTACCTCTCACGCCCCTCTCACACACGCCCCCACTCTCACACACACC CCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCACACA CACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACGCCCCCTCCC TCTCACACACGCCCCCCCCCTCACACACGCCCCCCCCACACACGCCCCTG CCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACAC GCCCCTACCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCCCCTCA CACACGCCCCCACTCTCACACACGCCCCTGCCTCTCACACACGCCCCTCC CTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTTTCACACACGC CCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTTTCAC ACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACACCCCT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
VNN1_chr6_132675849_132719055	132706868	C C	CAAAAGAA others(2020): Show CAAAAGAAGTTATACAGCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTCCC CACGGTCTCCCTCTCATGCGGAACCGAAGCTGGACTGTACTGCTGCCATC TCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGTCTGCCGAA TGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTGGTGGAG ACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTGGCCGCGAG TGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCT CGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATC TCGGCTCACTACAACCTACACCTCCCAGCCGCCTGCCTTGGCCTCCCAAA GTGCCGAGATTGCAGCCTCTGCCCAGCCGCCACCCCGTCTGGGAAGTGAG GAGTGTCTCTGCCTGGCCGCCCATTGTCTGGGATGTGAGGAGCCCCTCTG CCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATC CCATCTAGGAAGTGAGGAGCCCTCTTCCCAGCCGCCATCACATCTAGGAA GTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGC CTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCG AGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGA GAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGA GCCCCTCCGCCCGGCAGCTGCCCCCTCTGAGAAGTGAGGAGCCTCTCCGC CCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCA CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGTGTCAGCCCCCCACCCGGCTAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCCTCTGGGAGGGAGGTTGGGGGGTCAGCCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGC CCAACAGCTCATTGAGAATGGGCCGGGATGACAATGGCGGCTTTGTGGAG TAGAAAGGCGGGAAAGGTGGGGAAGGGATTGAGAAGTCGGATGGTTGCCG TGTCTGTGTGGAAGGAAGTGGACATGGGAGACTTTTCATTTTGTTCTGCA CTGGGAGAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTGCCC CCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATG GATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAG CATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGAC ACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGAC CTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGA CCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAA AATAAATTTAAATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	418	0.0024	2027	c.341 others(2044): Show c.341+4840_341+4841insTTTTTTTTTTTTTTTATTTAAATTTATT TTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGG TCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAG GTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGT GTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATG CTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATC CATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGG GGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTCTCCCAG TGCAGAACAAAATGAAAAGTCTCCCATGTCCACTTCCTTCCACACAGACA CGGCAACCATCCGACTTCTCAATCCCTTCCCCACCTTTCCCGCCTTTCTA CTCCACAAAGCCGCCATTGTCATCCCGGCCCATTCTCAATGAGCTGTTGG GCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCTGACCCCCCAACCTCCCTCCCAGAGGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTAGCCGGGTGGGGGGCTGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG TGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGG GCGGAGAGGCTCCTCACTTCTCAGAGGGGGCAGCTGCCGGGCGGAGGGGC TCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTC TCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCT CGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAG GCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCAC TTCCTAGATGTGATGGCGGCTGGGAAGAGGGCTCCTCACTTCCTAGATGG GATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGG CAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTC CTCACTTCCCAGACGGGGTGGCGGCTGGGCAGAGGCTGCAATCTCGGCAC TTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGTAGGTTGTAGTGAGCCGA GATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACG AGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGTTGGCGGATCA CTCGCGGCCAGGGGCTGGAGACCGGCCCGGCCAACACAGCGAAACCCCGT CTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCA TTCGGCAGACTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGA GATGGCAGCAGTACAGTCCAGCTTCGGTTCCGCATGAGAGGGAGACCGTG GGGAGAGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGCTGTATAACTTCTTTT	VNN1	ENSG00000112299.8	transcript	ENST00000367928.5	protein_coding	2/6			chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(2021): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCGTCCTCCTCTCCTCCTCCTC TTCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCCTC CTTGTCTCCTCTCTCTTCCTCTCCTCGTCCTCTCTCCTCTCTCCTCTTCC TCTCCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCTCTCCTCCCCCTCCT CCTCTCCTCCTCCTCCTCTCTCCCCCTCCTCCTCTCTCCTCCTCCTCTCT CCTCCTCCTCTCCTCCCTTCCTCTCCTCTCCTCCCCTTCCTCACTCTTCT CCTCCTCTCCTCTTCTCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTC TCCTCCCCTTCCTCCTCTCTCCTCCCTTCCTCCTCCTCTTCTCCTCCTCC TCTCCTCTTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCTCTTCTT TTCCTCTCCTCCTCCTCCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCT TCTCCTCTCCTCTTCCTGCTTCCTCTCGTCCTCCTCCCCTCCTCCTCCCC TCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCC TCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTCCTCTCCTCCTCTCTTCC TCCTCTCCTCCTCTCTTCCTCCTCTCCTCCTCTCCTCTTCCTCTCCTTCT CCTCTCCCTCATCCTGCTCCTCTTGTCCTCCTCTCCTCCTCCTTCTCTCC TCTTCCTGCTCCTCTCGTCCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCT CTTCTCTCCTGCCCCTCCTCCTCCTCTCCTCCTCCTCCTCCTCCTCCTCT CCTCCCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTCC TCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTCC TCTCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTC CTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTCGTC CTCCTCTCCTCCTCCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTC CTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTCCTCCTCCCCTT CTCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCTCCTTCCC CTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCTCTCCTCCT CCCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCCCTCC CCTCCTCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCCTCCTCT CCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCTCTT CCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCCT CCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCT CTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCCCCC TCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCC TTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTC TTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTC CTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCTCT TCCTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTCT CCTCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTCC TTCCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTTC TTGTCTCCTCCCCGTCCTCTTCTCTTCCTCTTCCTCCTCCACTCCTCCTC CTCTCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCCA CTCCTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0046 a0002c0002t0030g0046	1	218	0.0046	2028	c.108 others(2045): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGAAGAGAAGAGGACGGGGAGGAGACA AGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGGGA AGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAGAG GAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGAGG AAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAA GGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGGA AGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGA AGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGG AGGGGGAGGAGAGGAGGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAA GAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAG GAGGAGGAGAGGAGGACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAG GAAGAGGAGAGGAGGAGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAG GAGAGGAGGGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAGAGGGAGGAG GGGAGGGGGGAGGAGGAGAGGGGGAGGAGGATGGGGGAGGAGGAGAGGGG GAGGAGGAGAGGGGAGGAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGA GGGGAAGGAGAGAGGGGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGA GAAGGGGAGGAGGAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGA GGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGGAGGAGGAGAGGA GGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGA GGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGAG AGGAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGG AGGAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGGGAG GAGAGGAGGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGGGCAGGAGAGAA GAGAGAGGAGGAGGAGAGGAGGACGAGAGGAGGACGAGAGGAGCAGGAAG AGGAGAGAAGGAGGAGGAGAGGAGGACAAGAGGAGCAGGATGAGGGAGAG GAGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGG AGGAAGAGAGGAGGAGAGGAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGG AGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAG AGGGGAGGAGGAGGGGAGGAGGACGAGAGGAAGCAGGAAGAGGAGAGGAG AAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGGAGGAGGAGGAGAGGA AAAGAAGAGAGGAGGAGGAGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAG AGGAGGAGGAGAAGAGGAGGAGGAAGGGAGGAGAGAGGAGGAAGGGGAGG AGAGGAGGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGAAGAGGAGAGGAG GAGAAGAGTGAGGAAGGGGAGGAGAGGAGAGGAAGGGAGGAGAGGAGGAG GAGAGAGGAGGAGGAGAGAGGAGGAGGGGGAGAGAGGAGGAGGAGGAGAG GAGGAGGGGGAGGAGAGAGGAAGGGGAGAGGAGGAGGAGAGGACGAGGAG AGGAAGAGGAGAGAGGAGAGAGGACGAGGAGAGGAAGAGAGAGGAGACAA GGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCAGA AGAGGAGGAGGAGAGGAGGACGGTGGTGGACAAGAGGAGGAGGAGGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ARHGEF16_chr1_3449665_3486113	3477317	A A	ACCCACCC others(2021): Show ACCCACCCCCATCACCCCACAACCCACCCCCATCACCCCCACACTACCCA CCCCCATCACCCCACACTACCCACCCCATCACCCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCATCACCCCACACTACCCATCCCCATC ACCCCCACACGACCCACCCCCATCACCCCCACACTACCCACCCCATCACC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTA CCCACCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCC CCATCACCCCCACACTACCCACCCCATCACCCGCACACTACCCACCCCCA TCACCCCCACACTACCCATCCCCATCACCCCCACACTACCCACCATCACC CCACACTACCCACCCCCATCACCCCACACGACCCACCCCATCACCCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACTA CCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTACC CACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCCATCACCCCACACTACCCACCCCCATCACCCTCACTACCCACCCCAT CACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCATCACCCCACAC TACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTAC CCACCCCATCACCCGCACACTACCCACCCCCATCACCCCACTACCCATCC CCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCA TCACCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACT ACCCACCCCATCACCCGCACACTACCCACCCCCATCACCCCCACACTACC CACCCCATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCCC ATCACCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATC ACCCCACACTACCCACCCCATCACCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACT ACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACC CACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCACCCC CATCACCCTCACTACCCACCCCATCACCCGCACACTACCCACCCCATCAC CCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCCCAC ACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTA CCCACCCCCATCACCCCACTACCCACCCCCATCACCCCACACTACCCACC CCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGCAC ACTACCCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTA CCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACC CCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCAT CACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCAC CCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCC ACGCCGCCCACCCCATCACCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	334	0.0030	2028	c.147 others(2045): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCA CCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCC CCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCGCACA CTACCCACCCCCATCACCCCCACACTACCCATCCCCATCACCCCCACACT ACCCACCATCACCCCACACTACCCACCCCCATCACCCCACACGACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCA TCACCCCACACTACCCATCCCCATCACCCCCACACGACCCACCCCCATCA CCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCTCA CTACCCACCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACC CACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCGCACACTACCCACCCCCATCACC CCACTACCCATCCCCATCACCCCCACACTACCCACCCCATCACCCCCACA CTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCTCACTACCC ACCCCATCACCCCACACTACCCACCCCATCACCCCCACACTACCCACCCC CATCACCCTCACTACCCACCCCATCACCCGCACACTACCCACCCCCATCA CCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCT CACTACCCACCCCATCACCCGCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCATCACCCCACACTACCCACCCCATCACCCCACACTACCCA CCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCACCCCA TCACCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCA CCCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCA CACTACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTA CCCACCCCATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCACACTACCCACCCCCATCACCCCACTACCCACCCCCATCACCC CACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTAC CCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCAT CACCCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCC CACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACG CCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGC CCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCA CCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTGCCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTNL9_chr5_181035266_181066521	181045866	T T	TTCCTCCA others(2021): Show TTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAG CCTGTAGTGTTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCA TCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACC TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCAT CTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATC TCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCT GTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCT CCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCC AACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCC CCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCTCCAGCCCTCAACACCTCCTCCACCATCTCC CCAGCCCTCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCC ACCATCTCCCCAGCCCTCAACACCTCCTCCACCATCTCCCCAGCCTGTAG TGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCC AGCCCCCAACACCTCCTCCACCATCTCTCCAGCCCTCAACACCTCCTCCA CCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCCAAC ACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCTC AGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCAC CATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACA CCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCA GCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCAC CATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTG TTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAG CCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACC ATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACAC CTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAG CCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACC ATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACC TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CTCCAACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCA TCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTT CCTCCACCATCTCCCCAGCCCCCAACACC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0103 a0002c0003t0002g0103	1	390	0.0026	2028	c.109 others(2043): Show c.109+292_109+293insAACACCTCCTCCACCATCTCCCCAGCCTGT AGTGTTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCC CCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTA GTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCC CAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCA CCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAAC ACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCC AGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCA CCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGT GTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCA GCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACC ATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCCAACAC CTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAG CCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCA TCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACC TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCA TCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACC TCCTCCACCATCTCTCCAGCCCTCAACACCTCCTCCACCATCTCCCCAGC CCTCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCAT CTCCCCAGCCCTCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCTCCAGCCCTCAACACCTCCTCCACCATC TCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTC CTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCTCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCT CCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCC TCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTC CAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCT CCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCC AACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCC AACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCCA ACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCC CCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCC ACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTGTT others(2021): Show TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGG GTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA GTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0020 a0001c0027t0001g0020	1	292	0.0034	2028	c.268 others(2047): Show c.2683+3040_2683+3041insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DCDC1_chr11_30858603_31374739	30928614	A A	ATTACCAT others(2021): Show ATTACCATTGGTATCATAGGCTTACATAGTTTATATATTCCACAGATTAA AAACTCCAGAATCATTATATTAACAACCAGTTTTCTTAGGTAGGTATATG TGTAATATATGTAATACATGTATTATGTAATACATATGTAATATGCATAT GTAATACATGTATTATGTAATACATATGTAATATGCATATGTAATACATG TATTATGTAATACATATGTAATATGCATATGTAATACATGTATTATGCAA TACATATGTAATATGCATATGTAATACATGTATTATGCAATACATATGTA ATATGCATATGTAATACATGTATTATGCAATACATATGTAATATGCATGT GTAATACATGTATTATGCAATACATATGTAATATGCATGTGTAATACATG TATTCTGCAATACATATGTAATATGCATGTGTAATACATGTATTCTGCAA TACATATGTAATATGCATGTGTAATACATGTATTCTGCAATACATATGTA ATATGCATGTGTAATACATGTATTATGTAATACATATGTAATATGCATGT GTAATACATGTATTATGTAATACATATGTAATATGCATGTGTAATACATG TATTATGTAATACATATGTAATATGCATGTGTAATACATGTATTATGTAA TACATATGTAATATGCATGTGTAATACATGTATTATGTAATACATATGTA ATATGCATGTGTAATACATGTATTATGTAATACATATGTAATATGCATGT GTAATACATGTATTATGTAATACATATGTAATATGCATGTGTAATACATG TATTATGTAATACATATGTAATATGCATATGTAATACATGTATTATGTAA TACATATGTAATATGCATATGTAATACATGTATTATGTAATACATATGTA ATTTGTATTATGTACATATGTAATTGTATTATGTACATAATTTGTATTAT GTACATATGTAATTGTATTATGTACCTAATTTGTATTATGTACATATGTA ATTTGTATTATGTACATATGTAATTGTATTATGTATTACATATGTAATAT GTAATATGCATATGTAAAATACATACGTAATACATATGTAATATATACAC ATATGTACATCTATTACATATACACACATATGTATATATGTAATATACGT ATGTGCATATATGTAATATACATATGTGTATATATGTGATATACATGTGT GTATATATGTAATAGACATGTGTGTATATATGTAATAGACATGTGTATAT ATGTAATAGACATGTGTATATATGTAATAGACATGTGTGTATATATGTAA TAGATATACATGTGTGTATATATGTAATAGATATACATGTGTGTATATAT GTAATAGATATACATGTGTGTATATATGTAATAGATATACATGTGTGTAT ATATGTAATAGATATACATGTGTGTATGTGTAATAGATATACATGTGTGT ATATATGTAATAGATATACATGTGTGTATATATGTAATATTTAACCTATT ATAAACCAATTTTTATATATATTTAAATTGGTTTATAATAGGTAAAACAT AAAATTTCACTACCCCACCCTTAATGCAAGCAAATATAAACCAAATATTA CATACTATATATATTAAGTATATATATACTTACATAGTACGTACTATATA TATACTCTATATAGTATGTATTTAAGTATATATAAGTATATAGTATGTAT ATATATATATACTATATATAGTATGTAGTTGAGTATATATATAGTACGCA CTATATATCATATATACCATATATATAGTATGTTATCTGTTATAAATAAT CATTCAGGTATTTAAATGGAAAAAGCATTTGCATTTAGGATATTAAGTAT TTACCTTTCCAAAAATTGGTGAAATTCTACCTGGTCCATTTCTATTCCAG AATATTTAGTGACACAGATTTTCTCTTTCTTTTCAGTGTGAACACTTCTG AAACAAATGATCCGAGATTCGACTGATATCTCAGAATACATTGTCAATTA TCTCGACATACTTTAATATGTGAAAAATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0089 a0008c0011t0003g0089	1	152	0.0066	2028	c.289 others(2047): Show c.2897+3156_2897+3157insAATTTTTCACATATTAAAGTATGTCG AGATAATTGACAATGTATTCTGAGATATCAGTCGAATCTCGGATCATTTG TTTCAGAAGTGTTCACACTGAAAAGAAAGAGAAAATCTGTGTCACTAAAT ATTCTGGAATAGAAATGGACCAGGTAGAATTTCACCAATTTTTGGAAAGG TAAATACTTAATATCCTAAATGCAAATGCTTTTTCCATTTAAATACCTGA ATGATTATTTATAACAGATAACATACTATATATATGGTATATATGATATA TAGTGCGTACTATATATATACTCAACTACATACTATATATAGTATATATA TATATACATACTATATACTTATATATACTTAAATACATACTATATAGAGT ATATATATAGTACGTACTATGTAAGTATATATATACTTAATATATATAGT ATGTAATATTTGGTTTATATTTGCTTGCATTAAGGGTGGGGTAGTGAAAT TTTATGTTTTACCTATTATAAACCAATTTAAATATATATAAAAATTGGTT TATAATAGGTTAAATATTACATATATACACACATGTATATCTATTACATA TATACACACATGTATATCTATTACACATACACACATGTATATCTATTACA TATATACACACATGTATATCTATTACATATATACACACATGTATATCTAT TACATATATACACACATGTATATCTATTACATATATACACACATGTATAT CTATTACATATATACACACATGTCTATTACATATATACACATGTCTATTA CATATATACACATGTCTATTACATATATACACACATGTCTATTACATATA TACACACATGTATATCACATATATACACATATGTATATTACATATATGCA CATACGTATATTACATATATACATATGTGTGTATATGTAATAGATGTACA TATGTGTATATATTACATATGTATTACGTATGTATTTTACATATGCATAT TACATATTACATATGTAATACATAATACAATTACATATGTACATAATACA AATTACATATGTACATAATACAAATTAGGTACATAATACAATTACATATG TACATAATACAAATTATGTACATAATACAATTACATATGTACATAATACA AATTACATATGTATTACATAATACATGTATTACATATGCATATTACATAT GTATTACATAATACATGTATTACATATGCATATTACATATGTATTACATA ATACATGTATTACACATGCATATTACATATGTATTACATAATACATGTAT TACACATGCATATTACATATGTATTACATAATACATGTATTACACATGCA TATTACATATGTATTACATAATACATGTATTACACATGCATATTACATAT GTATTACATAATACATGTATTACACATGCATATTACATATGTATTACATA ATACATGTATTACACATGCATATTACATATGTATTACATAATACATGTAT TACACATGCATATTACATATGTATTACATAATACATGTATTACACATGCA TATTACATATGTATTGCAGAATACATGTATTACACATGCATATTACATAT GTATTGCAGAATACATGTATTACACATGCATATTACATATGTATTGCAGA ATACATGTATTACACATGCATATTACATATGTATTGCATAATACATGTAT TACACATGCATATTACATATGTATTGCATAATACATGTATTACATATGCA TATTACATATGTATTGCATAATACATGTATTACATATGCATATTACATAT GTATTGCATAATACATGTATTACATATGCATATTACATATGTATTACATA ATACATGTATTACATATGCATATTACATATGTATTACATAATACATGTAT TACATATGCATATTACATATGTATTACATAATACATGTATTACATATATT ACACATATACCTACCTAAGAAAACTGGTTGTTAATATAATGATTCTGGAG TTTTTAATCTGTGGAATATATAAACTATGTAAGCCTATGATACCAATGGT AA	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	22/38			chr11	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(2021): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGCCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGCCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	308	0.0033	2028	c.157 others(2043): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAA AGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC AGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAG TGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGCCGGAGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGCCGGAGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTAGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGG GCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAG TGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
JAKMIP3_chr10_132060946_132189858	132173044	C C	CCTCTCCT others(2021): Show CCTCTCCTTCCCTCTCCCTCTCCCTCTCCTTCCCTCTCCCTCCCTCTCTC TCTCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCCCCC TCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCC CCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCTCT CCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCT CCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCT CTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCTCC CCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCCCCTCTCCCTCCCC CTCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCT CTCCTTCCCTCTCTCTCCCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTCT CCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCTCT CTCTCCCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTCTCC CTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCTCTCCCTCTCC CTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCTCC TTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCTCCCCTTCCCTCTCTCT CTCTCCCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCCCTCTCTTA CCCTCTCCTTCCCTCTCCATCCCTCTCCCTCTCCTTCCCTCTCCTTCCCT CTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCT CTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCT CTCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTC CCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTC CCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTC CCCCTCCTTCCCTCTCTCCCCCTCTCCCCCTCTCCCCCCCTCCCCCCTCT CCCCCTCTCCCCCCTCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCC CCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCTTCCCTCTCTCTCCCTCTCCCCCTCCTACCCTCTCTCTC CCTCTCCCCCTCCTTCCCTCTCTCTTCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCTTCCCTCTCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTC CTTCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTTCCTCTCTC TCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCT TCCCTCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCT CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTT CCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCC CTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCCCCCTCCTTC CCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTC CCTCTCTCTCTCCCCCTCCTTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0035 a0001c0006t0035	a0001c0006t0035g0057 a0001c0006t0035g0057	1	158	0.0063	2028	c.11 others(2049): Show c.1103+4016_*1103+4017insCTTCCCTCTCCCTCTCCCTCTCCT TCCCTCTCCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTC TCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTC CTTCCCTCTCTCTCTCTCCCCCCTCTCCTTCCCTCTCTCTCTCCCTCTCC TTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCC CTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTT CCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCC TTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCC TTCCCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCT CCTTCCCCCTCTCCCTCCCCCTCTCCTTCCCCCTCTCCCTCCCCCTCTCC TTCCCTCTCTCCCTCCCCCTCTCCTTCCCTCTCTCTCCCTCTCCCCCTCT CCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCT CTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCCCCCTCTCC TTCCCTCTCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCC CTCCCTCTCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCTCTCCCTCTCC TTCCCTCTCTCTCTCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCT CTCTCCCCTTCCCTCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCCTCT CCTTCCCTCTCCCTCTCTTACCCTCTCCTTCCCTCTCCATCCCTCTCCCT CTCCTTCCCTCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCC TCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCC TCTCTCCCCCCTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCTCCTTCCCTCTCTCCCCCTCTCCCCC TCTCCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCC CCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCTTCCCTCTCTCTCCCTCTC CCCCTCCTACCCTCTCTCTCCCTCTCCCCCTCCTTCCCTCTCTCTTCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCTCCCCCTCCTTCCCTCTCTCTCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCTTCCC TCTCTCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCCCCCTCCCCC TCCTTCTCCTTTCCTCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTCCCTC TCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCCTCCT TCCCTCTCTCTCTCCCCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCT CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCT CTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCT CTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCT CTCCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTC TCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(2021): Show ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGC AGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAAC GCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGC ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACACGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCACAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCACAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0060 a0006c0006t0060	a0006c0006t0060g0284 a0006c0006t0060g0284	1	292	0.0034	2028	c.377 others(2045): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGTGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(2021): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCAGTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0167 a0001c0002t0002g0167	1	295	0.0034	2028	c.715 others(2045): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGT TCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(2021): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCAGTGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	295	0.0034	2028	c.715 others(2045): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCT CGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCT CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	A A	ACCACCTC others(2021): Show ACCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCA CCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACC TCCCTCACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACTTC CCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCC TCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTC TCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTC CACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCA CTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACC TCCCTCACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTC CCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACTTCCC TCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTC ACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACTTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACC TCCCTCACCACCTCCCTCACCAACTCCCTCACCACTTCCCTCTCCACCTC CCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACTTCCCTC TCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACC TCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTC CCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCC TCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTC ACCACTTCCCTCACCACCTCCCTCACCACCTCCCTCACCACTTCCCTCAC CACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCACCA CCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACTTCCCTCTCCACC TCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTC CCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACTTCCCTC TCCACCTCCCTCACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTC CACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCA CTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACC TCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTC CCTCACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCC TCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTC TCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACCTGCCTCATCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCA CCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACC TCCCTCACCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCACCACCTC CCTCACCACCTCCCTCACCACCTCCCTCG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	180	0.0056	2028	c.-35 others(2049): Show c.-351-17663_-351-17662insCGAGGGAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGCGAGGGAGGTGGTG AGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAG GGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGATGAGGC AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAG GTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGT GGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGG TGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAG AGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAG GGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGG AGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAG GTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGT GGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGG TGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAG AGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAG GGAGGTGGTGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAA GTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGT GGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAG AGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAG GGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAG GTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGT GGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGG AGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGTTGGTGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAG GGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGG AAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAA GTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGT GGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTG AGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAG GGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGG AGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAG GTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGT GGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG AGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAG GGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAG GTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
THAP4_chr2_241579405_241642158	241590992	T T	TTGGCTGA others(2021): Show TTGGCTGATGATGATGGGCACTAGGACACGCAGAGCTGCTCGGCTGATGA TGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATCATGGGCACT AGGACACACAGAACTGCCCGGCTGATGATGAGGGGCACTAGGACACTCAG AAGTGCCCGGCTGATGATGAGGGGCACTAGGACACTCAGAGCTGCCCGGG TGATGATAATGGGCACTAGGACACGCAGAGCTGCTCGGCTGATGATAATG GGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGAC ACACAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTG CTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGATG ATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATAATGGGCAC TAGGACACACAGAACTGCCCGGCTGATGATGAGGGGCACTAGGACACTCA GAACTGCCCGGCTGATGATGAGAGGCACTAGGACACTCAGAGCTGCTCGG CTGACGATAATGGGCACTAGGACACACAGAGCTGCTCGGCTGACGATAAT GGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGA CACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCT GCTCGGCTGATGATCATGGGCACTAGGACACACAGAGCTGCTCGGCTGAT GATGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCA CTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACACTC AGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCG GCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGA GGGGCACTAGGACACACAGAACTGCCCGGCTGATGATGAGGGGCACTAGG ACACTCAGAACTGCCCGGCTGACGATGAGGGGCACTAGGACACTCAGAGC TGCTCGGCTGACGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGA CGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGC ACTAGGACACTCAGAGCTGCCCGGCTGACGATGATGGGCACTAGGACACA CAGAACTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTC GGCTGATGATGATGGGTACTAGGACACTCAGAGCTGCTCGGCTGATGATG ATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGATGGGCACTAG GACACACAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAG CTGCCCGGCTGATGATGAGGGGCACTAGGACACTCAGAGCTGCCCGGCTG ATGATAATGGGCACTAGGACACGCAGAGCTGCTCGGCTGATGATAATGGG CACTAGGACACTCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACAC ACAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATAATGGGCACTCGGACACACAGAACTGCCCGGCTGACGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTA GGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGA GCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCCGGCT GATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGG GCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACA CACAGAACTGCTCGGCTGATGATGAGGGGCACTAGGACACTCAGAACTGC CCGGCTGATGATGAGGGGCACTAGGACACGCAGAGCTGCTCGGCTGACGA TAATGGGCACTAGGACACGCAGAACTGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	390	0.0026	2028	c.161 others(2047): Show c.1615-6268_1615-6267insGGCAGTTCTGCGTGTCCTAGTGCCCA TTATCGTCAGCCGAGCAGCTCTGCGTGTCCTAGTGCCCCTCATCATCAGC CGGGCAGTTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGTTCT GTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAG TGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATC ATCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGC AGCTCTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTG TCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCC ATCATCGTCAGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATTATCGTCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTC TGTGTGTCCTAGTGCCCATTATCATCAGCCGAGCAGCTCTGAGTGTCCTA GTGCCCATTATCATCAGCCGAGCAGCTCTGCGTGTCCTAGTGCCCATTAT CATCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGG CAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGT GTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTAGTGCC CATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTACCCATCATCATCA GCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTT CTGTGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGCTCTGAGTGTCCT AGTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCA TCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGA GCAGCTCTGAGTGTCCTAGTGCCCCTCATCGTCAGCCGGGCAGTTCTGAG TGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTTCTGTGTGTCCTAGTGC CCCTCATCATCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCATC AGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGC TCTGAGTGTCCTAGTGCCCATCATCATCAGCCGGGCAGCTCTGAGTGTCC TAGTGCCCATCATCATCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCATC ATCATCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATGATCATCAGCCG AGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGA GTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTG CCCATTATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATTATCGT CAGCCGAGCAGCTCTGAGTGTCCTAGTGCCTCTCATCATCAGCCGGGCAG TTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTTCTGTGTGTC CTAGTGCCCATTATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCAT CATCATCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCC GAGCAGCTCTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTG TGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGT GCCCATTATCATCAGCCGAGCAGCTCTGCGTGTCCTAGTGCCCATTATCA TCACCCGGGCAGCTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGGCA CTTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTTCTGTGTGT CCTAGTGCCCATGATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCA TCATCATCAGCCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGC CA	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241590992	T T	TTGGCTGA others(2021): Show TTGGCTGATGATGATGGGCACTAGGACACGCAGAGCTGCTCGGCTGATGA TGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACT AGGACACACAGAACTGCCCGGCTGATGATGAGGGGCACTAGGACACTCAG AAGTGCCCGGCTGACGATGATGGGCACTAGGACACACAGAGCTGCTCGGC TGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCTGATGATGATG GGCACTAGGACACTCAGAGCTGCCCGGCTGATGGTGATGGGCACTAGGAC ACTCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACACACAGAACTG CCCGGCTGATGATGAGGGGCACTAGGACACTCAGAACTGCCCGGCTGATG ATGAGAGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATAATGGGCAC TAGGACACACAGAGCTGCTCGGCTGACGATAATGGGCACTAGGACACACA GAACTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGG CTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATCAT GGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGATGGGCACTAGGA CACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACACTCAGAGCT GCCCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGAT GATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCA CTAGGACACACAGAGCTGCTCGGCTGATGATGAGGGGCACTAGGACACAC AGAACTGCCCGGCTGATGATGAGGGGCACTAGGACACTCAGAACTGCCCG GCTGACGATGAGGGGCACTAGGACACTCAGAGCTGCTCAGCTGACGATGA TGGGCACTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGCACTAGG ACACACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACTCAGAGC TGCTCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGA CGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGC ACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACA CAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCC GGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATG ATGGGCAGTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAG GACACACAGAACTGCTTGGCTGATGATCATGGGCACTAGGACACTCAGAA CTGCCCGGCTGATGATGAGGGGCACTAGGACACTCAGAGCTGCCCGGCTG ATGATAATGGGCACTAGGACACGCAGAGCTGCTCGGCTGATGATAATGGG CACTAGGACACTCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACAC ACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATAATGGGCACTCGGACACACAGAACTGCCCGGCTGACGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTA GGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGA GCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCCGGCT GATGATGATGGGCACTAGGACACTCAGAGCTTCTCGGCTGATGATGATGG GCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACA CACAGAACTGCTCGGCTGATGATGAGGGGCACTAGGACACTCAGAACTGC CCGGCTGATGATGAGGGGCACTAGGACACGCAGAGCTGCTCGGCTGACGA TAATGGGCACTAGGACACGCAGAACTGCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG03453.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0153 a0002c0005t0001g0154 a0002c0005t0001g0153 a0002c0005t0001g0154	2	390	0.0051	2028	c.161 others(2047): Show c.1615-6268_1615-6267insGGCAGTTCTGCGTGTCCTAGTGCCCA TTATCGTCAGCCGAGCAGCTCTGCGTGTCCTAGTGCCCCTCATCATCAGC CGGGCAGTTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGTTCT GTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAG TGCCCATCATCATCAGCCGAGAAGCTCTGAGTGTCCTAGTGCCCATCATC ATCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGC AGCTCTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTG TCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCC ATCATCGTCAGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATTATCGTCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTC TGTGTGTCCTAGTGCCCATTATCATCAGCCGAGCAGCTCTGAGTGTCCTA GTGCCCATTATCATCAGCCGAGCAGCTCTGCGTGTCCTAGTGCCCATTAT CATCAGCCGGGCAGCTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGG CAGTTCTGAGTGTCCTAGTGCCCATGATCATCAGCCAAGCAGTTCTGTGT GTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTACTGCC CATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCA GCCGGGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGA GCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGTG TGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGC CCATCATCGTCAGCTGAGCAGCTCTGAGTGTCCTAGTGCCCCTCATCGTC AGCCGGGCAGTTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGT TCTGTGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGCTCTGTGTGTCC TAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATC ATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCG GGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGGGCAGCTCTGA GTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTAGTG CCCATGATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCAT CAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAG TTCTGTGTGTCCTAGTGCCCATTATCGTCAGCCGAGCAGCTCTGTGTGTC CTAGTGCCCATTATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCTCT CATCATCAGCCGGGCAGTTCTGAGTGTCCTAGTGCCCCTCATCATCAGCC GGGCAGTTCTGTGTGTCCTAGTGCCCATTATCATCAGCCGAGCAGCTCTG AGTGTCCTAGTGCCCATCACCATCAGCCGGGCAGCTCTGAGTGTCCTAGT GCCCATCATCATCAGCCGAGCAGTTCTGTGTGTCCTAGTGCCCATCATCA TCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGGGCA CTTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTTCTGTGTGT CCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCA TCATCATCAGCCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGC CA	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
UCKL1_chr20_63934829_63961416	63948630	G G	GAGGGGTG others(2021): Show GAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGG GCGTGTGTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGAGTGGGGGCGTGTG TGAGGGGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGTAGGGG CGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GCAGGGGCGTGTGTGGGGGGGGCGTGTGTGAGGGGGGGGCGTGTGTGAGA GGGAGGGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTG TGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGG GGTGTGTGTGAGAGTGGGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGG CGTGTGTGAGAGGGAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTG TGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGTGGGGGC GTGTGTGGGGGGGGCGTGTGTGAGGGGGGGCGTGTGTGAGAGGTAGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGCA GGGGCGTGTGTGGGGGGGGGGCGTGTGTGAGGGGGGGGCGTGTGTGAGAG GGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTG TGTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGGGGGGGGC GTGTGTGAGGGGGGGCGTGTGAGAGGGAGGGGCGTGTGTGGGGAGGGGCG TGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGG GAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGTGTGTGT GAGAGTGGGGGCGTGTGTGAGAGTTAGGGGCGTGAGAGGTAGGGGCGTGT GTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGG CGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGA GGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGCGAGAGGGAGGGGCGTGT GTGAGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGG GGCGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGTGA GGGAGGGGCGTGAGAGGGAGGGGCGTGTGTGAGGGGGGGCGTGTGTGAGA GGTAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCG TGTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGA GGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGT GAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGG CGTGTGTGAGAGTGGGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGGCG TGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGG GAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTG TGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGCGTGTGTGAGAGTGGGG GCGTGTGTGAGAGGGGCGTGAGAGGTAGGGGCGTGTGTGAGAGGGAGGGG GCGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGA GGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTG AGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAAGGG GCGTGTGAGAGGGAGGGGCGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	356	0.0028	2028	c.114 others(2045): Show c.114-1988_114-1987insTCTCACACACGCCCCTCCCTCTCACACG CCCCTTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTC TCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACG CCCCCTCCCTCTCACACACGCCCCTACCTCTCACGCCCCTCTCACACACG CCCCCACTCTCACACACGCCCCTCCCTTCACACACGCCCCTCCCTCTCAC ACACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACAC ACGCCCCTACCTCTCACGCCCCTCTCACACACGCCCCCACTCTCACACAC GCCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCT CACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTCTCACAC ACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTAC CTCTCACACACGCCCCCCCTCACACACGCCCCTCCCTCTCACGCCCCTCC CTCACACACACGCCCCTGCCTCTCACACACGCCCCCTCCCTCTCACACGC CCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCA CACACGCCCCTCCCTCTCGCACACGCCCCCTCCCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACAC GCCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTCTCA CACACGCCCCTACCTCTCACGCCCCTAACTCTCACACACGCCCCCACTCT CACACACACCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACAC ACGCCCCTCCCCACACACGCCCCTCCCTCTCACACGCCCCCCCTCACACA CGCCCCCCCCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCAC ACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTC CCTCTCACACACGCCCCCCCCTCACACACGCCCCCCCCCCACACACGCCC CTGCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTCTCACACA CGCCCCTACCTCTCACACACGCCCCCCCTCACACACGCCCCCCCCACACA CGCCCCCACTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTC ACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTC CCTCTCACACACGCCCCTCCCTCTCACACACACCCCTCCCTCTCACACAC GCCCCTACCTCTCACGCCCCTCTCACACACGCCCCCACTCTCACACACAC CCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCACAC ACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACGCCCCCTCC CTCTCACACACGCCCCCCCCTCACACACGCCCCCCCCACACACGCCCCTG CCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACAC GCCCCTACCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCCCCCTC ACACACGCCCCCACTCTCACACACGCCCCTGCCTCTCACACACGCCCCTC CCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTTTCACACACG CCCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTTTCA CACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACACCCCT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
ABR_chr17_998519_1184981	1035495	C C	CCCCCCAC others(2022): Show CCCCCCACCCCTTCCATCCCCCACACCTGTTCCCCCACCCCTTCCATCCC CCACACCTGCTCCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCACC CCTTCCATCCCCCACACCTGCTCCCCCCACCCCTTCCATCCCCCACACCT GTTCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCCACCCCTTCCAT CCCCCACACCTGCTCCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCC CACCCCTTCCATCCCCCACACCTGCTCCCCCACCCCTTCCATCCCCCTAC ACCTGCTCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCCACCCCTT CCATCCCCCACACCTGCTCCCCCCACCTTCATCCCCCACACCTGCTCCCC CACCCCTTCCATCCCCCACACCTGCTCCCCCCACCCCTTCCATTCCCTAC ACCTTCTCCCCCACCCCTTCCATCCCGCTACACCTGTTCCCCCCTACCCC TTCCATCCCCCACACCTGCTCCCCCACCCCTTCCATCCCCCACACCTGCT CCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCTACCCCTTCCATCCC CCACACCTGTTCCCCCCTACCCCTTCCATCCCCCTACACCTGCTCCCCCC ACCCCTTCCATCCCCCACACCTGCTCCCCCCCACCCCTTCCATCCCCCAC ACCTGCTCCCCCCACCCCTTCCATCCCCTACACCTTCTCCCCCACCCCTT CCATCCCGCTACACCTGTTCCCCCCTACCCCTTCCATCCCCCACACCTGC TCCCCTACCCCTTCCATCCCCCACACCTGCTCCCCCACCCCTTCCATCCC CCACACCTGCTCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCTACC CCTTCCATCCCCCACACCTGTTCCCCCCTACCCCTTCCATCCCCCTACAC CTGCTCCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCCCACCCCTT CCATCCCCCACACCTGCTCCCCCCACCCCTTCCATCCCCTACACCTTCTC CCCCACCCCTTCCATCCCGCTACACCTGTTCCCCCCTACCCCTTCCATCC CCCACACCTGCTCCCCTACCCCTTCCATCCCCCACACCTGCTCCCCCACC CCTTCCATCCCCCACACCTGCTCCCCCACCCCTTCCATCCCCCACACCTG CTCCCCCTACCCCTTCCATCCACACCTGTTCCCCCCTACCCCTTCCATCC CCCACACCTGCTCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCCAC CCTTTCTACCCCCACCTGCTCCCCCCACCCCTTCCATCTCCCACACCTGC TCCCCCCACCCCTTCCATCCCCCTACACCTGCTCCCCCTCCCCTTCCATC CCCCACACCTGCTCCCCCACCCCTTCCATCCCCCACACGTGCTCCCCCTA CCCCTTCCATCCCCCACACCTGTTCCCCCCTACCCCTTCCATCCCCCACA CCTGCTCCCCCACCCCTTCCATCCCCCACACCTGCTCCCCCTACCCCTTC CATCCCCCACACCTGCTCCCCCTACCCCTTCCATCCCCCACACCTGCTCC CCCACCCCTTCCATCCCCCACACCTGCTCCCCCCACCCTTTCTACCCCCA CCTGCTCCCCCCACCCCTTCCATCTCCCACACCTGCTCCCCCCACCCCTT CCATCCCCCTACACCTGCTCCCCCTCCCCTTCCATCCCCCACACCTGCTC CCCCACCCCTTCCATCCCCCACACGTGCTCCCCCTACCCCTTCCATCCCC CACACCTGTTCCCCCCTACCCCTTCCATCCCCCACACCTGCTCCCCCACC CCTTCCATCCCCCACACCTGCTCCCCCTACCCCTTCCATCCCCCACACCT GCTCCCCCTACCCCTTCCATCCCCCACACCTATTCCCCTCTACCCCTTCC ATCCCCCTACACCTGCTCCCCCCACCCCTTCCATCACCCACACCTGCTCC CCCCCACTCCTTCCATCCCCCACAGCTGCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0241 a0001c0001t0031g0241	1	337	0.0030	2029	c.179 others(2050): Show c.1791+14554_1791+14555insAGCAGCTGTGGGGGATGGAAGGAG TGGGGGGGAGCAGGTGTGGGTGATGGAAGGGGTGGGGGGAGCAGGTGTAG GGGGATGGAAGGGGTAGAGGGGAATAGGTGTGGGGGATGGAAGGGGTAGG GGGAGCAGGTGTGGGGGATGGAAGGGGTAGGGGGAGCAGGTGTGGGGGAT GGAAGGGGTGGGGGAGCAGGTGTGGGGGATGGAAGGGGTAGGGGGGAACA GGTGTGGGGGATGGAAGGGGTAGGGGGAGCACGTGTGGGGGATGGAAGGG GTGGGGGAGCAGGTGTGGGGGATGGAAGGGGAGGGGGAGCAGGTGTAGGG GGATGGAAGGGGTGGGGGGAGCAGGTGTGGGAGATGGAAGGGGTGGGGGG AGCAGGTGGGGGTAGAAAGGGTGGGGGGAGCAGGTGTGGGGGATGGAAGG GGTGGGGGAGCAGGTGTGGGGGATGGAAGGGGTAGGGGGAGCAGGTGTGG GGGATGGAAGGGGTAGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGG AGCAGGTGTGGGGGATGGAAGGGGTAGGGGGGAACAGGTGTGGGGGATGG AAGGGGTAGGGGGAGCACGTGTGGGGGATGGAAGGGGTGGGGGAGCAGGT GTGGGGGATGGAAGGGGAGGGGGAGCAGGTGTAGGGGGATGGAAGGGGTG GGGGGAGCAGGTGTGGGAGATGGAAGGGGTGGGGGGAGCAGGTGGGGGTA GAAAGGGTGGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGGAGCAGG TGTGGGGGATGGAAGGGGTAGGGGGGAACAGGTGTGGATGGAAGGGGTAG GGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGGAGCAGGTGTGGGGGAT GGAAGGGGTGGGGGAGCAGGTGTGGGGGATGGAAGGGGTAGGGGAGCAGG TGTGGGGGATGGAAGGGGTAGGGGGGAACAGGTGTAGCGGGATGGAAGGG GTGGGGGAGAAGGTGTAGGGGATGGAAGGGGTGGGGGGAGCAGGTGTGGG GGATGGAAGGGGTGGGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGG GAGCAGGTGTAGGGGGATGGAAGGGGTAGGGGGGAACAGGTGTGGGGGAT GGAAGGGGTAGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGGAGCAG GTGTGGGGGATGGAAGGGGTGGGGGAGCAGGTGTGGGGGATGGAAGGGGT AGGGGAGCAGGTGTGGGGGATGGAAGGGGTAGGGGGGAACAGGTGTAGCG GGATGGAAGGGGTGGGGGAGAAGGTGTAGGGGATGGAAGGGGTGGGGGGA GCAGGTGTGGGGGATGGAAGGGGTGGGGGGGAGCAGGTGTGGGGGATGGA AGGGGTGGGGGGAGCAGGTGTAGGGGGATGGAAGGGGTAGGGGGGAACAG GTGTGGGGGATGGAAGGGGTAGGGGGAGCAGGTGTGGGGGATGGAAGGGG TGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGGAGCAGGTGTGGGGG ATGGAAGGGGTAGGGGGGAACAGGTGTAGCGGGATGGAAGGGGTGGGGGA GAAGGTGTAGGGAATGGAAGGGGTGGGGGGAGCAGGTGTGGGGGATGGAA GGGGTGGGGGAGCAGGTGTGGGGGATGAAGGTGGGGGGAGCAGGTGTGGG GGATGGAAGGGGTGGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGGA GCAGGTGTAGGGGGATGGAAGGGGTGGGGGAGCAGGTGTGGGGGATGGAA GGGGTGGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGGGAGCAGGTG TGGGGGATGGAAGGGGTGGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGG GGGAACAGGTGTGGGGGATGGAAGGGGTGGGGGGAGCAGGTGTGGGGGAT GGAAGGGGTGGGGGAGCAGGTGTGGGGGATGGAAGGGGTGGGGGGAGCAG GTGTGGGGGATGGAAGGGGTGGGGGAACAGGTGTGGGGGATGGAAGGGGT GGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(2022): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAAGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAAGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0362 a0001c0001t0002g0362	1	398	0.0025	2029	c.666 others(2044): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAAGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CTGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCA AGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2022): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATC TTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTC CTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACG CAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGT TCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACC TCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCT GAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGT AGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCT CAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATC AATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGT GACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAG TTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCT CCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTT TTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGA TGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGA ACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGC TCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGAC CAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAAT TAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAG TGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTA TATAAGAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAG ACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGA TTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGA TGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGC TCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCT CCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTT GTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAA ACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	159	0.0063	2029	c.-90 others(2044): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTT CGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCT GCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCA GCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTC TGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTC CGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGA GATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAG AGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAG CCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAA TCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGA CAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTT TAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTC ACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCC TGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTT GTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATG ACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAAC AATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTC TTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCA GCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTA GCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTG GAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATA TAAGAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGAC TTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATT GTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATG GAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTC ACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCC AGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGT ATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAAC TCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
GET4_chr7_871554_901436	890098	C C	CGGGGCCT others(2022): Show CGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAG TGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTC TGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGA GGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAG GGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAG GACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTG GGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCG GGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGTGGGTGTTAGGACG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	384	0.0026	2029	c.467 others(2044): Show c.467-827_467-826insGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAG GACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTTAG GACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCT GGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGAGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGG ACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTG GGAGTGGAGGGAGCGAGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGG GAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGA CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACG GGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGT GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTTAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890098	C C	CGGGGCCT others(2022): Show CGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAG TGGAGGGAGCGTGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTC TGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGA GGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAG GGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAG GACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTG GGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCG GGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGTGGGTGTTAGGACG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	384	0.0026	2029	c.467 others(2044): Show c.467-827_467-826insGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTTAGGACGGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAG GACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTTAG GACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCT GGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGAGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGG ACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTG GGAGTGGAGGGAGCGAGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGG GAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGA CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACG GGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGT GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTTAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890098	C C	CGGGGCCT others(2022): Show CGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGG AGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAG TGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTC TGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGA GGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAG GGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAG GACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTG GGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCG GGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGTGGGTGTTAGGACG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	384	0.0026	2029	c.467 others(2044): Show c.467-827_467-826insGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTA GGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGCCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAG GACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAG CGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTTAG GACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCT GGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAG GGAGCGAGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGG ACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTG GGAGTGGAGGGAGCGAGAGTGGGTGTTAGGACGGGGTCTGGGAGTGGAGG GAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCG GGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGA CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACG GGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGT GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTTAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMF1_chr16_848634_975984	914638	T T	TCCCTCCC others(2022): Show TCCCTCCCTCCTTCCCATGACCATTGGTGACACACTCCCTCCCTCCCTCC CCATGACCATTGGTGACACACTCCCTTCCTCCTTTCCATGACCACTGGTG ACACACTCCCTCCCTCCTTCCCATGACTATTGGTGACACACTCCCTCCCT CCCTTCCCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCCATGACC ATTGGTGACACATTCCCTCCCTCCTCATGACTATTGGTGACACACTCCCT CCCTCCCCATGACTATTGGTGACACACTCCCTCCCTCCCCATGACCATTG GTGACACATTCCCTCCCTCCCTCCTCATGACTATTGGTGACACACTCCCT CCCTCCCTCCCCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCCAT GACCATTGGTGACACACTCCCTCCCTCCCTCCCTTCCCATGACCATTGGT GACACACTCCTTCCCTCCCTCCCCGATGACCATTGGTGACACACTCCCTC CCTCCCTCCCCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCTTCC CATGACCATTGGTAACACACTCCCTCCCTCCCTTCCCATGACCATTGGTG ACACACTACCTCCCTCCCTCCCCATGACCATTGGTGAAACATTCCCTCCC TCCCTCCCTCCCAATGACTATTGGTGACACACTCCCTCCCTCCCTCCCTC CTCATGACCATTGGTGACACGATCCCTCCCTCCCTCCCTTCCCGTGACCA TTGGTGACACACTCCGTCCCTCCTTTCCCATGACCATTGGTGACACACTC CCTCCCTCCCTCCCCATGACTATTGGTGACACACTCCCTCCCTCATGACC ATTGGTGACACACTCCCTCCCTCCCTCCCCATGACTTGGTGACACACTCC CTCCCTCCCTCCTCATGACGATTGGTGACACACTACCTCCCTCCTTCCTC ATGACCATTGGTGACACACTCCCTCCCTCCCTCCCTTCCCATGACCATTG GTGACACACTCCCTCCCTCCCTCCCCATGACTATCGGTGACACACTCCTC CCTCCCCCCATGACTATCGGTGACACACTCCCTCCCTCCTCATGACCATT GGTGACACAATCCCTCCCTCCTCCATGACTATCGGTGACACACTCCCTCC CTCCTCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCTTCCCATGA CCATTGGTGACACACTCCCTCCCTCCCTCCCCATGACCATTGGTGACACA CTCCCTTCCTCCCTTCCTATGACCATTGGTGACACACTCCCTCCCTCCCT TCCCATGACCATTGGTGACACAATCCCTCCCTCCCTTCCCATGACCATTG GTGACACAATCCCTCCCTCCCCTTCCATGACCATTGGTGACACACTCCCT CCCTCCCTTCACATGACCATTGGTGACACACTCCCTCCCTCCCTTCCCAT GACCACTGGTGACACACTCCCTCCGTTCCCTCCCCATGACCATTGGTGAC ACACTCCCCTCCCTCCCATGACGTATTGGTAACACACTCCCTCCATCCCT CCCCATGACTATGATGACACTCTCCCTCCCTCCTTCCCTCCTCATAACCA TTGGTGACACACTCCCTCCCTCCCTCCCAATGACTATTGGTGACACACTC CCTCCCTCCCTCCCCATGACTATTGGTGACACACTCCCTCCCCTCCCTCT TCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCCATGGACCATTGG TGACACACTCCCCTCCCTCCTCATGAGCATTGGTGACACACTCCCTCCCT CCCATGACCATTGGTGACACACTCCCTCCCTCCCTCCTCATGACCATTGG TGGCACACTCCCTCCCTCCTTATGACCATTGGTGACACACTCCCTCCCTC CCTATGACTATTGGTGACACACTCCCTCCCTCCCTCATGACCATTGGTGA CACATTCCCCTCCCTCCATCTCATGACCATTGGTGACACACTCCATCCCT CCCTCCATCATGACCATTGGTGACACACTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0244 a0001c0023t0001g0244	1	294	0.0034	2029	c.515 others(2046): Show c.515-3560_515-3559insGAGTGTGTCACCAATGGTCATGATGGAG GGAGGGATGGAGTGTGTCACCAATGGTCATGAGATGGAGGGAGGGGAATG TGTCACCAATGGTCATGAGGGAGGGAGGGAGTGTGTCACCAATAGTCATA GGGAGGGAGGGAGTGTGTCACCAATGGTCATAAGGAGGGAGGGAGTGTGC CACCAATGGTCATGAGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATG GGAGGGAGGGAGTGTGTCACCAATGCTCATGAGGAGGGAGGGGAGTGTGT CACCAATGGTCCATGGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCAT GAAGAGGGAGGGGAGGGAGTGTGTCACCAATAGTCATGGGGAGGGAGGGA GGGAGTGTGTCACCAATAGTCATTGGGAGGGAGGGAGGGAGTGTGTCACC AATGGTTATGAGGAGGGAAGGAGGGAGGGAGAGTGTCATCATAGTCATGG GGAGGGATGGAGGGAGTGTGTTACCAATACGTCATGGGAGGGAGGGGAGT GTGTCACCAATGGTCATGGGGAGGGAACGGAGGGAGTGTGTCACCAGTGG TCATGGGAAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGTGAAGGGAG GGAGGGAGTGTGTCACCAATGGTCATGGAAGGGGAGGGAGGGATTGTGTC ACCAATGGTCATGGGAAGGGAGGGAGGGATTGTGTCACCAATGGTCATGG GAAGGGAGGGAGGGAGTGTGTCACCAATGGTCATAGGAAGGGAGGAAGGG AGTGTGTCACCAATGGTCATGGGGAGGGAGGGAGGGAGTGTGTCACCAAT GGTCATGGGAAGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGAGG AGGGAGGGAGTGTGTCACCGATAGTCATGGAGGAGGGAGGGATTGTGTCA CCAATGGTCATGAGGAGGGAGGGAGTGTGTCACCGATAGTCATGGGGGGA GGGAGGAGTGTGTCACCGATAGTCATGGGGAGGGAGGGAGGGAGTGTGTC ACCAATGGTCATGGGAAGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTC ATGAGGAAGGAGGGAGGTAGTGTGTCACCAATCGTCATGAGGAGGGAGGG AGGGAGTGTGTCACCAAGTCATGGGGAGGGAGGGAGGGAGTGTGTCACCA ATGGTCATGAGGGAGGGAGTGTGTCACCAATAGTCATGGGGAGGGAGGGA GGGAGTGTGTCACCAATGGTCATGGGAAAGGAGGGACGGAGTGTGTCACC AATGGTCACGGGAAGGGAGGGAGGGAGGGATCGTGTCACCAATGGTCATG AGGAGGGAGGGAGGGAGGGAGTGTGTCACCAATAGTCATTGGGAGGGAGG GAGGGAGGGAATGTTTCACCAATGGTCATGGGGAGGGAGGGAGGTAGTGT GTCACCAATGGTCATGGGAAGGGAGGGAGGGAGTGTGTTACCAATGGTCA TGGGAAGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGGAGGGA GGGAGGGAGTGTGTCACCAATGGTCATCGGGGAGGGAGGGAAGGAGTGTG TCACCAATGGTCATGGGAAGGGAGGGAGGGAGGGAGTGTGTCACCAATGG TCATGGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGGAGGGAG GGAGGGAGTGTGTCACCAATAGTCATGAGGAGGGAGGGAGGGAATGTGTC ACCAATGGTCATGGGGAGGGAGGGAGTGTGTCACCAATAGTCATGGGGAG GGAGGGAGTGTGTCACCAATAGTCATGAGGAGGGAGGGAATGTGTCACCA ATGGTCATGGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGAAG GGAGGGAGGGAGTGTGTCACCAATAGTCATGGGAAGGAGGGAGGGAGTGT GTCACCAGTGGTCATGGAAAGGAGGAAGGGAGTGTGTCACCAATGGTCAT GGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGAAGGAGGGAGG G	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
PAK2_chr3_196734857_196837647	196811266	T T	TTCCCTCC others(2022): Show TTCCCTCCCTCCCTTCCCTCCCTTCCTCCCTCCTTCCTTCCCTTCCTTTC TTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCT TCCTTTCCTTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTTCCCCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTT CCCTCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCTCCCTTCCT CCCGCTTCCCTTCCTTCCCTTCCCTCCCTTCCTCCCTTCCCTCCCTCCCC CCTTCCTTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTC CTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCTCCTTCCTT TCCTTCCTTTCCTTCCTCCTTCCCTTCCTCCCTCCCTCCCTCCCTTCCCT TCCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTTCCCTTCC CTTCCTTCCCTCCCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTC CCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCTTCTCCTTCCCTTC CCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTTCCCTTCCTTCCCTCCC TCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCT CCCTTCTCCCTTCCCTCCCTTCCCTTCCTTCCCTCCCTCCCCTCCCTCCC TTCCTTCCTTCCCTTCCCTCCCTTCCTCCTCCCCTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTCCCCTCCCTCCCT CCTTCCCTTCCTTCCCTCCCCTCCTTCCCTTCCTTCTTCCCTCCCTTCCC TCCCTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCTC CCTTCCTCCTCCCTCTCCCTCCCTTCCTTCTTCCTTCCTTCCTTCCCTTC CTTCCCTTCCTTCCCTTCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCCTCCCTTCCCTCCC TCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCT TCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCCTC CCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTTCCTTCC CATCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCC TCCCTTCCTTTCCTTCCTTTCCTTCCTTCTCCTTCCCTCCCTCCCCTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTTCCCGT CCCTCCCTTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCTTTCCTTCCTTTCCTTCCTTCC TCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCCCCTTCCTCT CCTTCCCCTCCCTTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTCCTTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCC TTCCCTCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCC TTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCT TCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTT CCTTCCTTCCTTCCTTCCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCC TCCCTCCCTCCCTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0113 a0001c0002t0059g0113	1	178	0.0056	2029	c.773 others(2044): Show c.773+618_773+619insCCCTCCCTTCCCTCCCTTCCTCCCTCCTTC CTTCCCTTCCTTTCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCC TCCCTTCCTTCCCTTCCTTTCCTTCCTTCCCTTCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTTCCTTCCCTTCCCCCTTCCCTCCCTCCCTCCCT CCCTTCCTTCCCTTCCCTCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTC CCTCCTCCCTTCCTCCCGCTTCCCTTCCTTCCCTTCCCTCCCTTCCTCCC TTCCCTCCCTCCCCCCTTCCTTTTCCTTCCTTCCTTCCCTTCCCTCCCTC CCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTC CCTCCTCCTTCCTTTCCTTCCTTTCCTTCCTCCTTCCCTTCCTCCCTCCC TCCCTCCCTTCCCTTCCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTTCCTTCC TTCCCTTCCCTTCCCTTCCTTCCCTCCCCCCTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCC TTCTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTCC CTTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTTCC CTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCC TCCCTCCCCTCCCTCCCTTCTCCCTTCCCTCCCTTCCCTTCCTTCCCTCC CTCCCCTCCCTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTCCTCCCCTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCC TCCCCTCCCTCCCTCCTTCCCTTCCTTCCCTCCCCTCCTTCCCTTCCTTC TTCCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCC TCCCTCCCCTCCTCCCTTCCTCCTCCCTCTCCCTCCCTTCCTTCTTCCTT CCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTCCCTCCCCTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCC CTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT TCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCC CTTCCTTTCCTTCCCATCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTC CCTCCCTTCCCTCCTCCCTTCCTTTCCTTCCTTTCCTTCCTTCTCCTTCC CTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTCCCTCCCTT CCTTCCCTTCCCGTCCCTCCCTTCCTTTCCTTCCCTCCCTTCCTTCCCTT CCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTTCCTTC CTTTCCTTCCTTCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCT TCCCCCCTTCCTCTCCTTCCCCTCCCTTCCCTCCCTTCCCTTCCCTCCCT TCCTTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCTCCCTTCCTTCCCTTCCTTTCCTTCCTT CCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCTT CCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCCTTCCTCCCTTCCTTCCC TTCCTTCCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(2022): Show ATATATATATAAATATATATATATATATAAATATATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATATAAATATATATAA ATATATATATAAATATATATATAAAAATATATAAAAAATATATAAAAATA TATATAAAAATATATATAAATATATATATAAATATATATAAATATAAATA TAAATATAAATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATACATATATATAAAAATATGTATA AATATATATAAATATATATATAAAAATATATATAAATATATAGATAAATA TATAGATAAATATATAGATAAATATATAGATAAATATATAGATAAATATA TATATAAATATATAGATAAATATATATAAATATATAGATAAATATATAGA TAAATATATATAAATATATAAAAATATATGTATATAAATATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATATAAATATATATATAAATATATATATAAATATATTTA TATATAAATATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATAAAAATATATAAAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATATA AGTATATATAAAAATATATATAAATATATATAAATATATATAAAAATATA TAAAAATATATATAAATATATAAATATATATAAATATATATAAAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATACATATATATAAA TATATATAAATATATATACATATATAAATATATAAAAAATATATAAATAT ATAAAAAATATATAAATATATAAAAATATATATAAATATATATAAATATA TATACATATATATACATATATATAAATATATAAAAATATATAAATATATA TAAATATAAATATATACAAATATATATATAAATATGTATAAATATATAAA AATATATATATAAATATATAAAAATATATATATTAATATATAAAAATATA TATATTAATATATAAAAATATATATAAATATATATATAAATATATATATA TAAATATATATAAAAATATATATAAAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATAAATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATATAAATATATA TAAACATATATAAATATATATAAAAATATATATAAATATATATAAATATA TATAAATATATATAAAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATAAAAAATATATAT AAATATATAAATATATATATATAAATATATATAAATATATAAAAAAAATA TATATAAATATATATAAATATATTTATATATATAAATATATTTATATATA AATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	186	0.0054	2029	c.-50 others(2040): Show c.-5060_-5059insTATATATATAAATATATATATATATATAAATATA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAAAATATATAAA AAATATATAAAAATATATATAAAAATATATATAAATATATATATAAATAT ATATAAATATAAATATAAATATAAATATAAATATATATATAAATATATAT ATAAATATATATATAAATATATATATAAATATATATATAAATACATATAT ATAAAAATATGTATAAATATATATAAATATATATATAAAAATATATATAA ATATATAGATAAATATATAGATAAATATATAGATAAATATATAGATAAAT ATATAGATAAATATATATATAAATATATAGATAAATATATATAAATATAT AGATAAATATATAGATAAATATATATAAATATATAAAAATATATGTATAT AAATATATATATAAATATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATATATAAATATATATATAAATATAT ATATAAATATATTTATATATAAATATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATATAAAAATATATAAAAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATATAAGTATATATAAAAATATATATAAATATATATAAAT ATATATAAAAATATATAAAAATATATATAAATATATAAATATATATAAAT ATATATAAAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATACATATATATAAATATATATAAATATATATACATATATAAATATATAA AAAATATATAAATATATAAAAAATATATAAATATATAAAAATATATATAA ATATATATAAATATATATACATATATATACATATATATAAATATATAAAA ATATATAAATATATATAAATATAAATATATACAAATATATATATAAATAT GTATAAATATATAAAAATATATATATAAATATATAAAAATATATATATTA ATATATAAAAATATATATATTAATATATAAAAATATATATAAATATATAT ATAAATATATATATATAAATATATATAAAAATATATATAAAAATATATAT AAATATATATATAAATATATATAAATATATATAAATATATATAAATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATATAAATATATATAAACATATATAAATATATATAAAAATATATATAA ATATATATAAATATATATAAATATATATAAAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATAAAAAATATATATAAATATATAAATATATATATATAAATATATATAAA TATATAAAAAAAATATATATAAATATATATAAATATATTTATATATATAA ATATATTTATATATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CACCACAC others(2022): Show CACCACACCCTACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCTACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCTACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACACACACCCTACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACCCTACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACCACACCC TACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCCCACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	338	0.0030	2029	c.35 others(2048): Show c.35+21564_*35+21565insACCACACCCTACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCTACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCTACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACCACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CACACACCCTACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCTACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACCACACCCTACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCCCACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ACTN2_chr1_236681499_236769631	236714957	T T	TAACCACT others(2023): Show TAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGA TATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACAC AGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTG TGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTC ACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAG ACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACT GAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATG TATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGC AAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA ACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTG TTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTG TGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATACCACTGAAGGGATATGTAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAG ACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCAC TGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTAT GTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0005 a0001c0029t0005	a0001c0029t0005g0107 a0001c0029t0005g0107	1	344	0.0029	2030	c.127 others(2047): Show c.127-2900_127-2899insACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCAC TGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTAT GTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAA GAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGA TAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGG ATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACA CAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGTAAGAG ACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACT GAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATG TATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATT CCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAG AGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGAT AA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(2023): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACAC TACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCA CCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCGCACA CTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTAC CCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCA CCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCATCACCCGCACACTACCCACCCCCAT CACCCCACACTACCCATCCCCATCACCCCCACACGACCCACCCCATCACC CCACACGACCCACCCCCATCACCCTCACTACCCACCCCCATCACCCCCAC ACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACGA CCCACCCCTATCACCCCACACTACCCACCCCCATCACCCCACACTACCCA TCCCCATCACCCCCACACGACCCACCCCATCACCCCACACTACCCACCCC CATCACCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACC CCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCA CTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCC ATCACCCTCACTACCCACCCCATCACCCGCACACTACCCATCCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAGCCCCAC TACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACCCC ATCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACC CCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCAACCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGC CGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGC CCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	334	0.0030	2030	c.147 others(2047): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCAC CCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCAT CACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCGCACAC TACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACC CACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCATCACCCGCACACTACCCACCCCCATC ACCCCACACTACCCATCCCCATCACCCCCACACGACCCACCCCATCACCC CACACGACCCACCCCCATCACCCTCACTACCCACCCCCATCACCCCCACA CTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACGAC CCACCCCTATCACCCCACACTACCCACCCCCATCACCCCACACTACCCAT CCCCATCACCCCCACACGACCCACCCCATCACCCCACACTACCCACCCCC ATCACCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCC CACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCAC TACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACC CACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACC CCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCA TCACCCTCACTACCCACCCCATCACCCGCACACTACCCATCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACC CACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCA CCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAGCCCCACT ACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACCCCA TCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCC CCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCAACCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCC GCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCC CACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTACCCACC CC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLEC17A_chr19_14578084_14617035	14595973	A A	ATGTTGTT others(2023): Show ATGTTGTTGGTGATGATGATGGTGGTGGTGAAGGCATTGATGGTGTTGGT GATGACAGTGCTGTTGGTAGTAATGATGGTGGTGAAGGTGGAGGTGGTGA TGGTGCCGTTAATATTGACAATGGTAGTGAGATAGTGTTAGGGTGGTGAT GGTGGGTGGAGATAGTGATGGTGTTGGTGATGGTGGTGGTGGTGGAGATA GTGATGGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGAAGTAGTGAT GGTGTTGTTGGTAGACATGATGGTGGTGATGGTGGATGTAGTGATGGTGT TGGTAGTGATGATGGTGGTGACGATGGAGGTAGTGATGGTGTTGGTAGAG ATGATGGTTATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGT GACGATGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGATGG TGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGTA GTGATGGTGTTGGTAGAGATGATGGCTATGGTGGAGGTAGTGATGGTGTT GTTGGTGATGATGGTGGTAGTGGAGGTAGTGATGGTGTTGGGAGTGATGA TGGTGGTGATGGTGGAAGTAGTGATGGTGTTGGTAGAGATGATGGTGATG ATGGTGGAGGTAGTGATGGTGTTGTTGGTAGTGATGATGGTGGTGATGGT GGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGTAG TGATGGTGTTGTTGGTAGAGATGATGGTTATGGTGGAGGTAGTGATGGTG TTGGTAATGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGT GATGATGGTGGTGGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGG TGATGGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGGTGGTGGAG GTAGTGATGGTGTTGGGAGTGATGATGGTGGTGATGGTGGAGGTAGTGAT GGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGG TAGAGATGATGGTTATGGTGGAGGTAGTGATGGTGTTGTTGGTGATGATG GTGGTAGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGACGAT GGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGATGGTGGAGG TAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGTAGTGATG GTGTTGGTAGAGATGATGGCTATGGTGGAGGTAGTGATGGTGTTGTTGGT GATGATGGTGGTAGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGG TGATGGTGGAAGTAGTGATGGTGTTGGTAGAGATGATGGTGATGATGGTG GAGGTAGTGATGGTGTTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGT AGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGTAGTGATGG TGTTGTTGGTAGAGATGATGGTTATGGTGGAGGTAGTGATGGTGTTGTTG GTAGTGATGATGGTGGTGGTGGAGGTAGTGATGGTGTTGGGAGTGATGAT GGTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGG TGGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGGTGGTGGAGGTA ATGATGGTGTTGTTGGGAGTGATGATGGTGGTGATGGTGGAGGTAGTGAT GGTGTTGTTGGGATTGATGATGGTGATGGTGGAGGTAGTGATGGTGTTGT TGGGATTGATGATGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGGAGTG ATGATGGTGGTGGTGGTGGAGGTAGTGATGGTGTTGTTGGGAGTGATGAT GGTGTTGTTGGGAGTGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGT TGGGATTGATGATGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGGAGTG ATGATGGTGGTGGTGGTGGAGGTAGTGATGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	364	0.0028	2030	c.445 others(2045): Show c.445+668_445+669insGATGATGATGGTGGTGGTGAAGGCATTGAT GGTGTTGGTGATGACAGTGCTGTTGGTAGTAATGATGGTGGTGAAGGTGG AGGTGGTGATGGTGCCGTTAATATTGACAATGGTAGTGAGATAGTGTTAG GGTGGTGATGGTGGGTGGAGATAGTGATGGTGTTGGTGATGGTGGTGGTG GTGGAGATAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGA AGTAGTGATGGTGTTGTTGGTAGACATGATGGTGGTGATGGTGGATGTAG TGATGGTGTTGGTAGTGATGATGGTGGTGACGATGGAGGTAGTGATGGTG TTGGTAGAGATGATGGTTATGGTGGAGGTAGTGATGGTGTTGGTAATGAT GATGGTGGTGACGATGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGG TGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATG GTGGAGGTAGTGATGGTGTTGGTAGAGATGATGGCTATGGTGGAGGTAGT GATGGTGTTGTTGGTGATGATGGTGGTAGTGGAGGTAGTGATGGTGTTGG GAGTGATGATGGTGGTGATGGTGGAAGTAGTGATGGTGTTGGTAGAGATG ATGGTGATGATGGTGGAGGTAGTGATGGTGTTGTTGGTAGTGATGATGGT GGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGG TGGAGGTAGTGATGGTGTTGTTGGTAGAGATGATGGTTATGGTGGAGGTA GTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGTAGTGATGGT GTTGTTGGTGATGATGGTGGTGGTGGAGGTAGTGATGGTGTTGGGAGTGA TGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTG GTGGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGGTGATGGTGGA GGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGTAGTGA TGGTGTTGGTAGAGATGATGGTTATGGTGGAGGTAGTGATGGTGTTGTTG GTGATGATGGTGGTAGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGT GGTGACGATGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGA TGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAG GTAGTGATGGTGTTGGTAGAGATGATGGCTATGGTGGAGGTAGTGATGGT GTTGTTGGTGATGATGGTGGTAGTGGAGGTAGTGATGGTGTTGGGAGTGA TGATGGTGGTGATGGTGGAAGTAGTGATGGTGTTGGTAGAGATGATGGTG ATGATGGTGGAGGTAGTGATGGTGTTGTTGGTAGTGATGATGGTGGTGAT GGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGG TAGTGATGGTGTTGTTGGTAGAGATGATGGTTATGGTGGAGGTAGTGATG GTGTTGTTGGTAGTGATGATGGTGGTGGTGGAGGTAGTGATGGTGTTGGG AGTGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGGAGTGA TGATGGTGGTGGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGGTG GTGGAGGTAATGATGGTGTTGTTGGGAGTGATGATGGTGGTGATGGTGGA GGTAGTGATGGTGTTGTTGGGATTGATGATGGTGATGGTGGAGGTAGTGA TGGTGTTGTTGGGATTGATGATGGTGATGGTGGAGGTAGTGATGGTGTTG TTGGGAGTGATGATGGTGGTGGTGGTGGAGGTAGTGATGGTGTTGTTGGG AGTGATGATGGTGTTGTTGGGAGTGATGATGGTGGTGATGGTGGAGGTAG TGATGGTGTTGGGATTGATGATGGTGATGGTGGAGGTAGTGATGGTGTTG TTGGGAGTGATGATGGTGGTGGTGGTGGAGGTAGTGATGGTGTTGTTGGT	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(2023): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTG CAGTTTATAGATAATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATAATATGGGGG TGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGTCAGGGCGGGGGTGCAGTTTATAGATGATATGGGGGTGGGGAGG GGGGTGCAGTTTATAGATAATATGGGGGTGGGGAAGGGATGCAGTTTATA GATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGTCAGGGCGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATAATA TGGGGGTCAGGGCGGGGGTGCAGTTTATAGATGATATGGGGGTGGGGAAG GGATGCAGTTTATAGATAATATGGGGGTGGGGAAGGGATGCAGTTTATAG ATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGC CAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTAT AGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGGGGT GGGGACAGGGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGT ACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAA TATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGC AGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTT ATAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0166 a0003c0021t0001g0166	1	272	0.0037	2030	c.109 others(2049): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATGATATGGGGGTG GGGAGGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAG ATAATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGG GGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGTCAGGGCGGGGGTGCAGTTTATAGATGATATG GGGGTGGGGAGGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGAAGGG ATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGTCAG GGCGGGGGTGCAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGT TTATAGATAATATGGGGGTCAGGGCGGGGGTGCAGTTTATAGATGATATG GGGGTGGGGAAGGGATGCAGTTTATAGATAATATGGGGGTGGGGAAGGGA TGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGT GCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTA TAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATA TGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGG GGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGG TAATATGGGGGTGGGGACAGGGTGCAGTGTATAGATAATATGGGGGGCGG GGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTA GTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATA TGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAG GGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTAT AGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CSF2RA_chrX_1263814_1314935	1274561	A A	ATAATCCA others(2023): Show ATAATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGC TACTGTGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT CCAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGCGATCTCAGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTC AGGCTCTCGAGTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAA TTTTTCTATTTTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTT CTTGAACTTCTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGC TGGGATGACAGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGC AGTGGTGCGATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTT CAAACGATTCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATG GACCACCACACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTC AACCTCCCGAGTAGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAA TTTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTT CTCGAACTCCTGGCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGC TGGGATGACAGGCATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAG GGATATATGAGACATCAATCAATACGTGTAAGATATGCATTGATGATGTC CGGTAAGTCCCTAAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTT TCCACAGAATACACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTT TTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTG CAGTCATGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCT ATTCTCCTGCCGCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCAC CATGCCCAGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCATCTTGG CCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAA ATCTGCATTTTTACATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCT CACCCCTGTAATTCCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTG AGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTC TACTGAAAGTACAAAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCA GGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGC AACAGAGCGAAACTCTTATATATAAAAAAAAAAAAAAAAAAAAGGTAGGG GAGAGGAAACAATCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGA TTTCCTTGTGGCCAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTT GTTTTGTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCA ATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAAT TCTACTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCA TGCCCAACTAATTTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTG GCCAGGCTGGTGTCAAACTCCTGGCCTCAGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	159	0.0063	2030	c.-90 others(2045): Show c.-90-193_-90-192insAATCCACTTGCCTCGGCCTCCCAAAGTGCT GGGCTGACGGGCTTGAGCTACTGTGCCCGGCCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGTAGTGC AGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTC AAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGATTAGAGGCACTC ACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAGACGGGGCTTCAC CATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAGTGATCCACCTGC CTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACTGTGCCCGGA CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTC ACTGGGATTACAGGCATGGACCACCACACGCAGCTCATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAAGGCTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCAGGTTC AAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGGCACCT GCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCAC CATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCACCTGC CTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCACCCGGC CGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGTGTAAG ATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTTTCATT CGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGCTCAGT AAATCTGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCT GTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACCTCC GCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCTGGG ACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTA AAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGC CACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCAGAG GAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGTCCG AGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACA TAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGTAGT GTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAG AATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCA CTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATATAAAAAAAAA AAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATCTGTTT GTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAGATATG TAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTCTCTGT CACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGC CTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGAT TACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGCAGAGA AAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCTCAGGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2023): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCA GACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAG ATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAG ATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAG CTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCC TCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTT TGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCA AACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	159	0.0063	2030	c.-90 others(2045): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCT TCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCC TGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGC AGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTT CTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCT CCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTG AGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTA GAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTC AAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGA GCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCA ATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTG ACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGT TTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCT CCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTT TTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGA TGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGA ACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGC TCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGAC CAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAAT TAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAG TGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTA TATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGA CTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGAT TGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGAT GGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCT CACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTC CAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTG TATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAA CTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2023): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCA GACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAG ATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAG ATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAG CTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCC TCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTT TGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCA AACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	159	0.0063	2030	c.-90 others(2045): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAA CCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCA CTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTA GTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGAC CTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCG TGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATC TTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTC CTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACG CAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGT TCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACC TCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCT GAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGT AGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCT CAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATC AATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGT GACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAG TTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCT CCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTT TTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGA TGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGA ACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGC TCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGAC CAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAAT TAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAG TGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTA TATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGA CTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGAT TGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGAT GGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCT CACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTC CAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTG TATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAA CTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2023): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTCAGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCA GACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAG ATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAG ATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAG CTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCC TCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTT TGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCA AACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	159	0.0063	2030	c.-90 others(2045): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATC TCAGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCC TGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGC AGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTT CTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCT CCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTG AGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTA GAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTC AAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGA GCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCA ATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTG ACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGT TTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCT CCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTT TTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGA TGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGA ACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGC TCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGAC CAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAAT TAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAG TGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTA TATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGA CTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGAT TGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGAT GGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCT CACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTC CAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTG TATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAA CTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CUL4A_chr13_113204613_113272108	113232097	T T	TCACCACT others(2023): Show TCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGCCACCACTACCCGCCCACCACCATTACTGCCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGCCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGCCACCACTACCCGCCCACCACCATTACT GCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATT ACTACTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACCACCCGCCCACCACCATTACTACTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACCACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTA CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGCT GCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACCACCCGCCCACCACCATTACTACTGCCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCTGCCCACCACCATTACTGTCACCACCACCCGCCCAC CACCATTACTACTGCCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATT ACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTAC TACTGCCACCACCACCTGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACCACCCGCCCACCACCATTACTACTGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0343 a0001c0001t0004g0343	1	396	0.0025	2030	c.513 others(2047): Show c.513-1052_513-1051insCTGCCACCACTACCCGCCCACCACCATT ACTGCCACCACTACCCGCCCACCACCATTACTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGC CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGCCACCACTACCCGCCCACCACCATTACTGCCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTACTG CCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGCCACCACTACCCG CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACC ACCACCCGCCCACCACCATTACTACTGCCACCACTACCCGCCCACCACCA TTACTGTCACCACCACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTACTGCCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACCACCCGCCCACCACCATTACTACTGCCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCAC CACTACCTGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATT ACTACTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTG CTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCC ACCACCACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC CACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACCA CCCGCCCACCACCATTACTACTGCCACCACTACCCGCCCACCACCATTAC TG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRR5L_chr11_36291288_36470204	36309624	C C	CATGATGG others(2023): Show CATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGTGGTATTGGGGATG ATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTAATGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGG TGGTGGTAGTGGGGATGGTAGTGGTGATGGTAGTGGGGATGGTGGTGGTG GTATTGGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGCAG TGGGGATGGTGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGCATTGGGG TTGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGA TGCTGCTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATG CTGCTGGTGGTATTGGGGATGATGGCGGTGGTGGTATTGGGGATGATGGT GGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTG GTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGT GGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGG TATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGT GGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGA GCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGG ATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGAT GATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGA TGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATG GTGGTGGTGGTAGTGGGGATGATGGGTGGTGATATTGGGGATGATGGTGG TGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTG GTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGT GGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGG TATTGGGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATT GGGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGG ATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGAT GATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGA TGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGAGATGATG GTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGG TGGTGATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTG GTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGGTGGTGGTGGT ATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAT TGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGTGGG GATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGTGGGGATG ATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGG TGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGT GGTGATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGG TGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGT ATTGGAGATGATGGTGGTGGTGGTAGTGAGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0137 a0001c0007t0001g0137	1	272	0.0037	2030	c.-12 others(2051): Show c.-126+13216_-126+13217insGTGGTGGTGGTATTGGGGATGATG GTGGTGGTGGTAGTGGGGATGGTGGTGGTGGTGGTATTGGGGATGATGGT GGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTAATGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTG GTAGTGGGGATGGTAGTGGTGATGGTAGTGGGGATGGTGGTGGTGGTATT GGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGCAGTGGGG ATGGTGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGCATTGGGGTTGAT GGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGCTG CTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGCTGCT GGTGGTATTGGGGATGATGGCGGTGGTGGTATTGGGGATGATGGTGGTGG TGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTG GTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGT AGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAG TGAGCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTG GGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGTGGGGA TGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATG ATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGG TGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTG GTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGT GGTGGTAGTGGGGATGATGGGTGGTGATATTGGGGATGATGGTGGTGGTG GTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGT ATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAG TGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTG GGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGAT GGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGATGATGG TGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTG GTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGT GGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTG ATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGT AGTGGGGATGATGGTGGTGGTGGTATTGGGGATGGTGGTGGTGGTATTGG GGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGG ATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGTGGGGATGA TGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGTGGGGATGATGGT GGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTG GTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTGA TATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTA GTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGG AGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGG ATGATG	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36309624	C C	CATGATGG others(2023): Show CATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGTGGTATTGGGGATG ATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTAATGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGG TGGTGGTAGTGGGGATGGTAGTGGTGATGGTAGTGGGGATGGTGGTGGTG GTATTGGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGCAG TGGGGATGGTGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGCATTGGGG TTGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGA TGCTGCTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATG CTGCTGGTGGTATTGGGGATGATGGCGGTGGTGGTATTGGGGATGATGGT GGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTG GTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGT GGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGG TATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGT GGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGA GCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGG ATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGAT GATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGA TGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATG GTGGTGGTGGTAGTGGGGATGATGGGTGGTGATATTGGGGATGATGGTGG TGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTG GTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGT GGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGG TATTGGGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATT GGGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGG ATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGAT GATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGA TGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATG GTGGTGGTGGTAGTGGGGATGATGGGTGGTGATATTGGGGATGATGGTGG TGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTG GTGGTATTGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGT ATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAT TGGGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGG GATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATG ATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGG TGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGT GGTGATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGG TGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGT ATTGGAGATGATGGTGGTGGTGGTAGTGAGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	272	0.0037	2030	c.-12 others(2051): Show c.-126+13216_-126+13217insGTGGTGGTGGTATTGGGGATGATG GTGGTGGTGGTAGTGGGGATGGTGGTGGTGGTGGTATTGGGGATGATGGT GGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTAATGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTG GTAGTGGGGATGGTAGTGGTGATGGTAGTGGGGATGGTGGTGGTGGTATT GGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGCAGTGGGG ATGGTGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGCATTGGGGTTGAT GGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGCTG CTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGCTGCT GGTGGTATTGGGGATGATGGCGGTGGTGGTATTGGGGATGATGGTGGTGG TGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTG GTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGT AGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAG TGAGCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTG GGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTAGTGGGGA TGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATG ATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGG TGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTG GTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGT GGTGGTAGTGGGGATGATGGGTGGTGATATTGGGGATGATGGTGGTGGTG GTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGT ATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAG TGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTG GGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGAT GGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGATGATGG TGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTG GTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGT GGTGGTAGTGGGGATGATGGGTGGTGATATTGGGGATGATGGTGGTGGTG GTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGT ATTGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGG GGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGG ATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGA TGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGT GGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTG GTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTGA TATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTA GTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGG AGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGG ATGATG	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
SMYD3_chr1_245744347_246512279	246325187	G G	GGGGCGGG others(2023): Show GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAG GAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGG CCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGA GAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAA GGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGG AAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGG GGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAG GGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCGGGAAGGAGGGAGAAGGAGTGGGGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAAGAGT CGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGA GAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAG AAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAA GGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGT CGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0141 a0002c0003t0001g0141	1	150	0.0067	2030	c.531 others(2047): Show c.531+2013_531+2014insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCC TCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTC CTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCC CCGACTCTTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACT CCTTCTCCCTCCTTCCCGCCCCCCCCACTCCTTCTCCCTCCTTCCCGCCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCT TCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTC TCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTC CTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCT TCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCC CGGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCC CTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCGACTC CTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGC CC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
YEATS2_chr3_183692797_183817624	183715278	T T	TAGGAAAT others(2023): Show TAGGAAATTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTT TTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCA TGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTC TCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTC CCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTG CCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCAT TTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGG TAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGC AGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGG CAACCATCCGATTTCCCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTC CACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGCTGGGCA CACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCCCACCTCCTGGGCGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGTCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACCGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC CCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCACCTCC CTCCCGGACGGGGTGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGATG GGGTGGCTGCTGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGC CGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGG GTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTC CCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGG CGGTGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAG AGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCT CACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTCCCAG ACTGGGCGGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCC AGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGC TGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGG TTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGA GCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCG AGGTTGGCGGATCACTCGCAGTTAGGGGCTGGAGACCGGCCCGGCCAACA CAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCC TGCAATGGCAGGCACTGGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGG TTGCAGTGAGCTGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATG AGAGGGAGACCGTGGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGA CGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0002 a0011c0027t0002	a0011c0027t0002g0310 a0011c0027t0002g0310	1	310	0.0032	2030	c.100 others(2043): Show c.100+32_100+33insTTTTTTTTTTTTTTTTTTTTTTAATTTATTTT TTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTC ATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGT CTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGT CCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCT GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCA TTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGG GTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTG CAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACG GCAACCATCCGATTTCCCAATCTTTTCCCCACCTTTCCCGCCTTTCTATT CCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGCTGGGC ACACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCCCACCTCCTGGGCGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGTCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACCGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCT CCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCACCTC CCTCCCGGACGGGGTGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGAT GGGGTGGCTGCTGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTG CCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAG GGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGG GCGGTGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCA GAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCC TCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTCCCA GACTGGGCGGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGC CAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGG CTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAG GTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTG AGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCC GAGGTTGGCGGATCACTCGCAGTTAGGGGCTGGAGACCGGCCCGGCCAAC ACAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGC CTGCAATGGCAGGCACTGGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAG GTTGCAGTGAGCTGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCAT GAGAGGGAGACCGTGGGGAGACGGAGACGGAGACGGAGACGGAGACGGAG ACGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAAATTATTTCTTT	YEATS2	ENSG00000163872.16	transcript	ENST00000305135.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(2024): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCCTCC TTGTCTCCTCCTCTCTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCTCTT CCTCTCCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCCTCTCCTCCCCCT CCTCCTCTCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCTCC TCCTCTCCTCCTCCTCCTCTCCTTCCCTTCCTCCTCCTCTCCTCCCCTTC CTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCTC CTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCCTTCCT CCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCTCCT CTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTC CTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTCGTC CTCCTCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCCT CTCCTCCTCCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCT CCTCCTCTCCTCCTCTCTTCCTCCTCTCCTCCTCTCCTCTTCCTCTCCTT CTCCTCTCCTCATCCTGCTCCTCTTGTCCTCCTCTCCTCCTCCTTCTCTC CTCTTCCTGCTCCTCTCGTCCTCCTCTCGTCCTCCTCTCCTCCTCCTCTC CTCTTCCTCTCCTGCCCCTCCTCCTCCTCTCCTCCTCCTCCTCCTCCTCT CCTCCCCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTC CTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTC CTCCTCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTC TCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTCG TCCTCCTCTCCTCCTCCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCC TCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTCCTCCTCCCC TTCTCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTT CCCCTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCC TCCTTCCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCC TCCCCTCCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTC CTCTCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCC TCTTCCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCC TCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTC TCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTG CCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCT CCCCTTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCT CTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTT CCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCTC TTCCTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTC TCCTCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTC CTTCCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTT CTTGTCTCCTCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTCCTC CTCCTCTCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCT CCACTCCTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0018 a0005c0006t0018	a0005c0006t0018g0192 a0005c0006t0018g0192	1	218	0.0046	2031	c.108 others(2048): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGA GGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAG AAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAG GAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAA GGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGA GGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAG AGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGG AGGAGGAGAGGAGGACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGG AAGAGGAGAGGAGGAGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGG AGAGGAGGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAG GGGAGGGGGAGGAGGAGAGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGA AGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGA GGGGAAGGAGGAGAGGGGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGG AGAAGGGGAGGAGGAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGG AGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGGAGGAGGAGAGG AGGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGG AGGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGA GGAGGAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGA GGAGGAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGGG GAGGAGAGGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGGGCAGGAGAGGA AGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGGACGAGAGGAGCAGGA AGAGGAGAGAAGGAGGAGGAGAGGAGGACAAGAGGAGCAGGATGAGGAGA GGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGGAAGAGAGGAGGAGAG GAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAGGA GGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGA GGAGGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGA GGAGGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGA GGAGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAG GAGGAGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAGG AGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAGGA GGAGGAAGGGGAGGAGAGGAGGAGGAAGGGAAGGAGAGGAGGAGGAGGAG AGGAGGAGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGAGAG GAGGAGGGGGAGGAGAGGAGGAAGGGGAGAGGAGGAGGAGAGGACGAGGA GAGGAAGAGGAGAGGAGGAGGAGAGGACGAGGAGAGGAAGAGAGGAGGAG ACAAGGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAG CAGAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGA GAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2024): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03491.hp1 NA18973.hp2 others(2): Show HG01496.hp2 HG03491.hp1 NA18973.hp2 NA19012.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0070 a0001c0001t0002g0069 a0001c0001t0002g0071 others(2): Show a0001c0001t0001g0070 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0004g0072 a0001c0001t0004g0159	5	159	0.0315	2031	c.-90 others(2046): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATC TTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTC CTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACG CAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGT TCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACC TCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCT GAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGT AGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCT CAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATC AATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGT GACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAG TTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAG ACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCC TCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTT TTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGG ATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATG AACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAG CTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGA CCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAA TTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGG AGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGA GTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTT ATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAG ACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGA TTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGA TGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGC TCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCT CCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTT GTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAA ACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGA T	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2024): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	159	0.0063	2031	c.-90 others(2046): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATC TTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTC CTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACG CAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAG ACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCC TCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTT TTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGG ATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATG AACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAG CTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGA CCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAA TTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGG AGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGA GTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTT ATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAG ACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGA TTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGA TGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGC TCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCT CCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTT GTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAA ACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGA T	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
KANK1_chr9_499695_751103	514222	T T	TCCTCTCT others(2024): Show TCCTCTCTCCCTTCCTCCTCCCTCCCTCCTCCCTCCCGCCCTCCGTCCTC TCTCCCGTCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCACTCCCTC CCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTGCCTCCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCTCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCC TCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCTCTCCCTCCC TCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCTCTCTCCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCC TCCCTCCCGCCCTCCCTTCCTCTCTCCCTTCCTCCCTACCTTCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCGCCCTTCCTCTCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTC CCTTTCCTCCCTCCCTCCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTC TCCCTTCCTCCCTCCCCTCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTTCCTCTCTCCCGTCCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTC TCTCCCTCCCTCTCTCCCTTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCTCTCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTC TCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTC CCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCTCCCTTC CTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCT CCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTCTCTTCCTCCTCCCTCCCTCCCTCCCTCTCTTCCTCCC TCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCC TTCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTC CCTCCCTTCCTTCCTCCCTTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0008 a0012c0009t0008	a0012c0009t0008g0233 a0012c0009t0008g0233	1	254	0.0039	2031	c.-84 others(2048): Show c.-84+9472_-84+9473insTCTCCCTTCCTCCTCCCTCCCTCCTCCC TCCCGCCCTCCGTCCTCTCTCCCGTCCTCCCTCTCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTTCCT CCCTCCCTCACTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCTCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCC CTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCTCTCCCTCCCTCCCTTC CTCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCTCTCTCCCCTCCCTCCCTCCCTCCCTCC CTTCCTCTCTCCCTCCCTCCCTCCCGCCCTCCCTTCCTCTCTCCCTTCCT CCCTACCTTCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCGCCCTTCCTCT CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCT CCCTCCCTTCCTCTCTCCCTTTCCTCCCTCCCTCCCCTCCCTCCCTTCCT CTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCCTCCTCCCTCCCTTCCT CTCTCCCTTCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCTCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCGTC CTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCTCTCCCTCCCTCTCTCCCTTCTCCCTCCCTCCC TCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCT CTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCT CCCTCCCTCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTC TCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCTCCCTCCCTCC CTCCCTCTCTTCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCT CCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTCTCTCTCC CTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
MED16_chr19_862963_898187	871889	A A	AGAGCGGG others(2024): Show AGAGCGGGGAGAGCGCGGAGAGCGGGGAGAGGGGAGAGCGGGGAGAGCGG GGAGAGGGGAGAGCGGGGAGAGGGGAGAGCGGGGAGAGGGGAGAGCGGGG AGAGCGGGGAGAGGGGAGAGCGGGGAGAGCGGGGAGAGGGGAGAGCGGGG AGAGGGGAGAGCGGGGAGAGGGGAGAGAGGGGAGACGGGAGAGGGGAGAC GGGAGAGGGGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGGGGAGAGAGGG GAGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGA GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGAGGGGAG AGGGGAGAGGGGAGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGAGGG GAGAGGGGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGGGGAGAGGGGAGA GAGGGGAGAGAGGGGAGAGGGGAGAGGGGAGAGAGGGGAGAGGGGAGAGA GGGGAGAGGGGAGAGAGGGGAGAGGGGAGAGGGGAGAGAGGGGAGAGGGG AGAGAGGGGAGAGGGGAGAGAGGGGAGAGGGGAGAGGGGAGAGAGGGGAG AGGGGAGCGGAGAGAGGGGGAGAGGGGAGCGGGGAGAGGGGAGCGGGGAG AGGGGAGCGGGGAGCGGGGAGAGAGGGGAGCGGGGAGAGAGGGGAGCGGG GAGAGAGGGGAGCGGGGAGAGGGGAGCGGGGAGCGGGGAGAGAGGGGAGC GGGGAGCGGGGAGAGAGGGGAGCGGGGAGAGGGGAGAGAGGGGAGCGGGG AGAGGGGAGAGAGGGGAGCGGGGAGAGGGGAGAGAGGGGAGCGGGGAGAG GGGAGAGAGGGGAGCGGGGAGAGGGGAGAGAGGGGAGCGGGGAGAGGGGA GCGAGGGGAGCGGGGAGAGGGGAGCGAGGGGAGCGGGGAGAGGGGGAGCG GGGAGAGGGGAGAGAGGGGAGCGGGGAGAGGGGAGAGAGGGGAGCGGGAG AGAGGGGAGCGGGGAGCGGGAGAGAGGGGAGCGGGGAGCGGGGAGCGGGG AGAGAGGGGAGCGGGAGAGGGAGAGAGGGGGAGCGGGGGAGCGGGGAGCG GGGAGGGAGGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGG AGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGAGGGA GGGGAGCGGGGAGCGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGA GCGGGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGG GGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGGAGCGGGGAGAGAGGGGAG CGGGGAGAGGGAGAGAGGGGGAGCGGGGAGCGGGGAGCGGGGAGGGAGGG GAGCGGGGGAGCGGGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGG AGCGGGGAGCGGGGAGGGAGGGGAGAGGGGAGCGGGGAGGGAGGGGAGAG GGGAGCGGGGAGGAGAGAGGGGAGCGGGGAGGAGAGAGGGGAGCGGGGAG GAGAGAGGGGAGCGGGGAGGAGAGAGGGGAGGAGAGAGGGGAGGAGAGAG GGGAGGAGAGAGGGGAGCGGGGGGAGCGGAGGGGAGCGGGGGGAGCGGGG GGGGAGCGGGGGGGAGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGG GAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGG GGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGG AGGGGCGGGGCGGGGGGCGGGGAGGGGCGGGGGCGGGGGCGGGGAGGGGC GGGGGCGGGGCGGGGAGGGGCGGGGGCGGGGAGGGGCGGGGGCGGCGGGG GGAGAGGGGCGGGGGGGAGAGGGGCGGGGCGGGCGGGGGGGAGAGGGGCG GGGCGGGCGGGGGGGAGAGGGGCGGGGGCGGGCGGGGGGGAGAGGGGCGG GGCGGGCGGGGGGGAGAGGGGAGGGGCGGGCG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	56	0.0179	2031	c.209 others(2046): Show c.2098+36_2098+37insCGCCCGCCCCTCCCCTCTCCCCCCCGCCCG CCCCGCCCCTCTCCCCCCCGCCCGCCCCCGCCCCTCTCCCCCCCGCCCGC CCCGCCCCTCTCCCCCCCGCCCGCCCCGCCCCTCTCCCCCCCGCCCCTCT CCCCCCGCCGCCCCCGCCCCTCCCCGCCCCCGCCCCTCCCCGCCCCGCCC CCGCCCCTCCCCGCCCCCGCCCCCGCCCCTCCCCGCCCCCCGCCCCGCCC CTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTC CCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCC TCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCTCCCCCCCGCTCC CCCCCCGCTCCCCCCGCTCCCCTCCGCTCCCCCCGCTCCCCTCTCTCCTC CCCTCTCTCCTCCCCTCTCTCCTCCCCTCTCTCCTCCCCGCTCCCCTCTC TCCTCCCCGCTCCCCTCTCTCCTCCCCGCTCCCCTCTCTCCTCCCCGCTC CCCTCTCCCCTCCCTCCCCGCTCCCCTCTCCCCTCCCTCCCCGCTCCCCG CTCCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCCCCGCTCCCCCGC TCCCCTCCCTCCCCGCTCCCCGCTCCCCGCTCCCCCTCTCTCCCTCTCCC CGCTCCCCTCTCTCCCCGCTCCCCGCTCCCCGCTCCCCTCCCTCCCCGCT CCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCC GCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCCGCTCCCCGCTCC CCTCCCTCCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCC CTCCCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCCTCCCTC CCCGCTCCCCGCTCCCCCGCTCCCCCTCTCTCCCTCTCCCGCTCCCCTCT CTCCCCGCTCCCCGCTCCCCGCTCCCCTCTCTCCCGCTCCCCGCTCCCCT CTCTCCCGCTCCCCTCTCTCCCCTCTCCCCGCTCCCCTCTCTCCCCTCTC CCCGCTCCCCCTCTCCCCGCTCCCCTCGCTCCCCTCTCCCCGCTCCCCTC GCTCCCCTCTCCCCGCTCCCCTCTCTCCCCTCTCCCCGCTCCCCTCTCTC CCCTCTCCCCGCTCCCCTCTCTCCCCTCTCCCCGCTCCCCTCTCTCCCCT CTCCCCGCTCCCCTCTCTCCCCTCTCCCCGCTCCCCTCTCTCCCCGCTCC CCGCTCCCCTCTCTCCCCGCTCCCCGCTCCCCTCTCCCCGCTCCCCTCTC TCCCCGCTCCCCTCTCTCCCCGCTCCCCTCTCTCCCCGCTCCCCGCTCCC CTCTCCCCGCTCCCCTCTCCCCGCTCCCCTCTCCCCCTCTCTCCGCTCCC CTCTCCCCTCTCTCCCCTCTCCCCTCTCCCCTCTCTCCCCTCTCCCCTCT CTCCCCTCTCCCCTCTCTCCCCTCTCCCCTCTCCCCTCTCTCCCCTCTCC CCTCTCTCCCCTCTCCCCTCTCTCCCCTCTCCCCTCTCCCCTCTCTCCCC TCTCTCCCCTCTCCCCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCCCCTC TCCCCTCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCTCCCCTCTCCC CTCTCCCCTCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC TCCCCTCTCTCCCCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCCCCTCTC CCGTCTCCCCTCTCCCGTCTCCCCTCTCTCCCCTCTCCCCGCTCTCCCCT CTCCCCGCTCTCCCCTCTCCCCGCTCTCCCCGCTCTCCCCTCTCCCCGCT CTCCCCGCTCTCCCCTCTCCCCGCTCTCCCCTCTCCCCGCTCTCCCCTCT CCCCGCTCTCCCCGCTCTCCCCTCTCCCCGCTCTCCGCGCTCTCCCCGCT C	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
RAD51B_chr14_67814779_68483093	67927791	T T	TATATATA others(2024): Show TATATATATTATATAATATACACATTATATATAATGTGTATATATATTAT ATATATACACACATATATAATGTGTATATATAATATATATACACATTATA TATAATGTGTATATTATATTATATATACACATTATATATGTGTGTATATA TATTATATAATATACACATTATATATAATGTGTATATATTATATATATAT ACACATATATAATGTGTATATATATATAATACACACACACACACATATAT ATACACATTGTATTTCATTATATATATATATCACATTTTCTTTATCCACT CATCCCTTTGTGAGAACTTAGGTTGATTCCATACCTTGGCTATTGTGAAC AGTGTTGTGATAAACATGTGAATTCAGGAATCCCTTTGATATGCTGATTT CTTTTCCTTTGGATAGATTCCCAGTACTGATATTGTTGGATTGTATGGTA GTTTTAGTTTTAGTTTTCTGAGAAAACTTCATACTGTTTTTCCATAGCAG TTACTAATTTTCATTTCCACCAACAGTATATAAGAGTTCCCTTTTCTCTG AATCCTCATCAGCATCTGTTGCTTTTTATATTTTCAATAATACCCAGTCT AATTGGGGTGCTTTGATATCTCATTGTGGTTTAATTTGCATTTCCCTGAT GGTTAGTGATGTTGAGCATTTTTATCCCTGTTGGCCATTTGTATGTATTC ATACATTTTTGAGAAGTGTCTATTCATATCCTTTGTCCCCCCACCCCCCC GGCTTTTTTTTGAGACAAGGTCCTGCTCTGTCAGCCAGGCTGGCTGGAGT GCTGTGGCATGTTCATAGCTCATTACAACCTCGAACTTCTGGATTTAAGT GATCCCCCCTGCTTAAGCCTCCTGAGTAGCTGGGACTACCTGTAGGTGCA TGCCCCCATGCCCAGCTAATTTTTTTATTTTTCTTTTTGTACAGATGAGT TCTTCCTGTGTTGCCTAGCTGGTCTCAAACTCCTGACCTCAAGTGATACT CCTGCCTTGGCCTCCCAAAGCACTGGAATTATAGGCATAAGCCACTGAGC CCAGGCCCTTTGCTCATTTTTGAATGATATTATCATATTTTTACTGTTGA GTTGTTTGAGTTCCTTGTATATTCTGGATATTAGTCCTCTGTCAGATGAG TAATTTGCAAATATACTCTCCCAGTCATGAGGTTGTCTCTTTACTCTATC TATTCTTTTGCTATGCAGAAGTTTCTTAGTTTAATATAGTCTCATTTGTC TATTTTTGTTTTTGTTGCCTGTGCTTTTGAGATCTTAGTTGTAAAATCTT TGCCCAGACAAATGTCCTGAAAAGTTTTCTCTATGCTTTCTTCTAGTAGC TTTATATTTTTGGATCTTATGTTTTAAGTCCTTAATCCATCTTGAGTTAG CTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTCCTCTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTC ACATCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGCCC GCCGCCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCTGGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCT TGAGTTAGCTTTTGTATGTGGTGAGAGATGGGGGTCTAGTTTCATTCTTC TGAATAAATATATATATAATATATTCAGTTTTCCCAGCATCATTTATTGA AGAGAGTGTTCTTTCCCCAATGTATGTTCTTGGGGGCTTTGTCAAAGATC AGTTGGCTGTAAATATGTGGATGTAATTCTGGGTTCTCTATTCTGTCTTA TTGGTCTCTGTGTCTGTTTTTACACTAACACTACGGTATTTTGGTTACTA TAGCTTTGTAATATATTTTGAAATCAGATGGTGTGATACCTCCAGCTTTG TTCTTTTGGCTCAGGATTGCTTTGGCTATTCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0006 a0005c0006t0001g0006	1	84	0.0119	2031	c.756 others(2050): Show c.756+40587_756+40588insATATATATTATATAATATACACATTA TATATAATGTGTATATATATTATATATATACACACATATATAATGTGTAT ATATAATATATATACACATTATATATAATGTGTATATTATATTATATATA CACATTATATATGTGTGTATATATATTATATAATATACACATTATATATA ATGTGTATATATTATATATATATACACATATATAATGTGTATATATATAT AATACACACACACACACATATATATACACATTGTATTTCATTATATATAT ATATCACATTTTCTTTATCCACTCATCCCTTTGTGAGAACTTAGGTTGAT TCCATACCTTGGCTATTGTGAACAGTGTTGTGATAAACATGTGAATTCAG GAATCCCTTTGATATGCTGATTTCTTTTCCTTTGGATAGATTCCCAGTAC TGATATTGTTGGATTGTATGGTAGTTTTAGTTTTAGTTTTCTGAGAAAAC TTCATACTGTTTTTCCATAGCAGTTACTAATTTTCATTTCCACCAACAGT ATATAAGAGTTCCCTTTTCTCTGAATCCTCATCAGCATCTGTTGCTTTTT ATATTTTCAATAATACCCAGTCTAATTGGGGTGCTTTGATATCTCATTGT GGTTTAATTTGCATTTCCCTGATGGTTAGTGATGTTGAGCATTTTTATCC CTGTTGGCCATTTGTATGTATTCATACATTTTTGAGAAGTGTCTATTCAT ATCCTTTGTCCCCCCACCCCCCCGGCTTTTTTTTGAGACAAGGTCCTGCT CTGTCAGCCAGGCTGGCTGGAGTGCTGTGGCATGTTCATAGCTCATTACA ACCTCGAACTTCTGGATTTAAGTGATCCCCCCTGCTTAAGCCTCCTGAGT AGCTGGGACTACCTGTAGGTGCATGCCCCCATGCCCAGCTAATTTTTTTA TTTTTCTTTTTGTACAGATGAGTTCTTCCTGTGTTGCCTAGCTGGTCTCA AACTCCTGACCTCAAGTGATACTCCTGCCTTGGCCTCCCAAAGCACTGGA ATTATAGGCATAAGCCACTGAGCCCAGGCCCTTTGCTCATTTTTGAATGA TATTATCATATTTTTACTGTTGAGTTGTTTGAGTTCCTTGTATATTCTGG ATATTAGTCCTCTGTCAGATGAGTAATTTGCAAATATACTCTCCCAGTCA TGAGGTTGTCTCTTTACTCTATCTATTCTTTTGCTATGCAGAAGTTTCTT AGTTTAATATAGTCTCATTTGTCTATTTTTGTTTTTGTTGCCTGTGCTTT TGAGATCTTAGTTGTAAAATCTTTGCCCAGACAAATGTCCTGAAAAGTTT TCTCTATGCTTTCTTCTAGTAGCTTTATATTTTTGGATCTTATGTTTTAA GTCCTTAATCCATCTTGAGTTAGCTTTTTTTTTTTTTTTTTGGAGACGGA GTCTTCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAC GGCAAGCTCCACCTCCTGGGTTCACATCATTCTCCTGCCTCAGCCTCCCT AGTAGCTGGGACTACAGGTGCCCGCCGCCACGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCT CCTGACCTTGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCATGAGCCACCGCGCCTGGCTTGAGTTAGCTTTTGTATGTGGTGAGAG ATGGGGGTCTAGTTTCATTCTTCTGAATAAATATATATATAATATATTCA GTTTTCCCAGCATCATTTATTGAAGAGAGTGTTCTTTCCCCAATGTATGT TCTTGGGGGCTTTGTCAAAGATCAGTTGGCTGTAAATATGTGGATGTAAT TCTGGGTTCTCTATTCTGTCTTATTGGTCTCTGTGTCTGTTTTTACACTA ACACTACGGTATTTTGGTTACTATAGCTTTGTAATATATTTTGAAATCAG ATGGTGTGATACCTCCAGCTTTGTTCTTTTGGCTCAGGATTGCTTTGGCT ATTCA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10			chr14	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(2024): Show ATATATATATAAATATATATATATATATAAATATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATATAAATATATATATAAAAATATATAAAAAATATATAAAAATA TATATAAAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATAAATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATACATATATATAAAAATATGTATA AATATATATAAATATATATATAAAAATATATATAAATATATAGATAAATA TATAGATAAATATATATATAAATATATAGATAAATATATAGATAAATATA TATATAAATATATAGATAAATATATATAAATATATAGATAAATATATAGA TAAATATATATAAATATATAAAAATATATGTATATAAATATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATATAAATATATATATAAATATATATATAAATATATTTA TATATAAATATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATAAAAATATATAAAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATATA AGTATATATAAAAATATATATAAATATATATAAATATATATAAAAATATA TAAAAATATATATAAATATATAAATATATATAAATATATATAAAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATACA TATATATAAATATATATAAATATATATACATATATAAATATATAAAAAAT ATATAAATATATAAAAAATATATAAATATATAAAAATATATATAAATATA TATACATATATATACATATATATACATATATATAAATATATAAAAATATA TAAATATATATAAATATAAATATATACAAATATATATATAAATATGTATA AATATATAAAAATATATATATAAATATATAAAAATATATATATTAATATA TAAAAATATATATATTAATATATAAAAATATATATAAATATATATATAAA TATATATATATAAATATATATAAAAATATATATAAAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAACATATATAAATATATATAAAAATATATATAAATATA TATAAATATATATAAATATATATAAAAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA AAATATATATAAATATATATATATAAATATATATAAATATATAAAAAATA TATATATAAATATATATAAATATATTTATATATATAAATATATTTATATA TAAATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	186	0.0054	2031	c.-50 others(2042): Show c.-5060_-5059insTATATATATAAATATATATATATATATAAATATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAAAATATATAAA AAATATATAAAAATATATATAAAAATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATAAATATAAATATATATATAAATATATAT ATAAATATATATATAAATATATATATAAATATATATATAAATACATATAT ATAAAAATATGTATAAATATATATAAATATATATATAAAAATATATATAA ATATATAGATAAATATATAGATAAATATATATATAAATATATAGATAAAT ATATAGATAAATATATATATAAATATATAGATAAATATATATAAATATAT AGATAAATATATAGATAAATATATATAAATATATAAAAATATATGTATAT AAATATATATATAAATATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATATATAAATATATATATAAATATAT ATATAAATATATTTATATATAAATATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATATAAAAATATATAAAAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATATAAGTATATATAAAAATATATATAAATATATATAAAT ATATATAAAAATATATAAAAATATATATAAATATATAAATATATATAAAT ATATATAAAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATATAAATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATAAATATATATATAAATATATATAAATATATATAAATATATAAATAT ATATAAATATATATATAAATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATACATATATATAAATATATATAAATATATATACATATAT AAATATATAAAAAATATATAAATATATAAAAAATATATAAATATATAAAA ATATATATAAATATATATACATATATATACATATATATACATATATATAA ATATATAAAAATATATAAATATATATAAATATAAATATATACAAATATAT ATATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAAAT ATATATATTAATATATAAAAATATATATATTAATATATAAAAATATATAT AAATATATATATAAATATATATATATAAATATATATAAAAATATATATAA AAATATATATAAATATATATATAAATATATATAAATATATATAAATATAT ATAAATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATATATAAACATATATAAATATATATAAAA ATATATATAAATATATATAAATATATATAAATATATATAAAAATATATAT AAATATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATAAATATATAAAAAATATATATAAATATATATATATAAATATATATA AATATATAAAAAATATATATATAAATATATATAAATATATTTATATATAT AAATATATTTATATATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar

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Search Results (Total: 10000 hits)