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
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACATAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	396	0.0025	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTATGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCATTGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	396	0.0025	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCAATGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(553): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCGGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGC GCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAA TCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTC AACAAATCACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 NA20805.hp1 HG02145.hp1 HG03579.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0004g0141 a0001c0001t0001g0035 a0001c0001t0004g0141	3	396	0.0076	560	c.4+ others(573): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCC GACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTG AGCGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGAT TGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGC ACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(553): Show CGGGAGGGCGGGACGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGG GAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGC GGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACG GAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGGAG GGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGG AGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGG GACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGAG GGATGGAGGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0162 a0002c0006t0001g0162	1	410	0.0024	560	c.465 others(575): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCC TCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC CGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGT CCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGT CCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCC CGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCC CTCCCTCCCTCCCTCCCGTCCCGCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404337	T T	TGAGGGGT others(553): Show TGAGGGGTGTGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGG GACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTG AGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGA CGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAG GGGTGTGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGA CGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAG GGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACG GGGTCCTGCCCCGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGG GGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGG GGTCCTGCCCCGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCCCTGAGGG GTCTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACG GGTCCTGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0097 a0001c0001t0120g0097	1	322	0.0031	560	c.27 others(571): Show c.2758_*2759insGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAG GGCAGGACCCCGTCCCCCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCC CCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCG GGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCCC CCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGG GGCAGGACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCC CCTCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGG ACAGGGCCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCC CCTCAGACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGG CAGGACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCC TCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGAC AGGGCCCCGTCCCCCCCACACCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1107		chr19	TogoVar
CACNA2D3_chr3_54117552_55079557	54736011	A A	ATATACAT others(553): Show ATATACATATATATATACGTATATATATATACGTATATATATGTATATAT ATATACATATATATGTATATATATACATATATATACGTATATATATATAC ATATATATACGTATATATATATACGTATATATATACATATATACGTATAT ATATATATATACGTATATATATGTATATATATACGTATATATATATACAT ATATATACGTATATATATACGTATATATACGTATATATATATACATATAT ATACGTATATATATATACGTATATATACGTATATATATATACGTATATAT ACGTATATATATACGTATATATACGTATATATATATACATATATATACGT ATATATATATACGTATATATATACATATATACGTATATATATATATATAC GTATATATATGTATATATATACGTATATATATGTACATATATATACGTAT ATATATACATATATACGTATATATATATATACGTATATATATGTATATAT ATACGTATATATATATACATATATATACGTATATATATATACATATATAT ACGTATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0092 a0001c0008t0001g0092	1	118	0.0085	560	c.116 others(581): Show c.1168-16584_1168-16583insCATATATATATACGTATATATATA TACGTATATATATGTATATATATATACATATATATGTATATATATACATA TATATACGTATATATATATACATATATATACGTATATATATATACGTATA TATATACATATATACGTATATATATATATATACGTATATATATGTATATA TATACGTATATATATATACATATATATACGTATATATATACGTATATATA CGTATATATATATACATATATATACGTATATATATATACGTATATATACG TATATATATATACGTATATATACGTATATATATACGTATATATACGTATA TATATATACATATATATACGTATATATATATACGTATATATATACATATA TACGTATATATATATATATACGTATATATATGTATATATATACGTATATA TATGTACATATATATACGTATATATATACATATATACGTATATATATATA TACGTATATATATGTATATATATACGTATATATATATACATATATATACG TATATATATATACATATATATACGTATATATGTATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALN1_chr7_71774491_72417338	72114309	G G	GAAGGGAA others(553): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG CAAGGCAAGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	1	142	0.0070	560	c.245 others(577): Show c.245-8016_245-8015insGCCTTGCCTTGCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CCDC88C_chr14_91266323_91422820	91293454	C C	CCACCTTC others(553): Show CCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGC CACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTC ACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTC CCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATTCTCACCCGCCACAGCTCACCTTCCTATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCAC CCACCACAGCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03540.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0064 a0002c0002 a0001c0064 a0002c0002	a0001c0064t0001 a0002c0002t0001 a0001c0064t0001 a0002c0002t0001	a0001c0064t0001g0071 a0002c0002t0001g0255 a0002c0002t0001g0256 a0001c0064t0001g0071 a0002c0002t0001g0255 a0002c0002t0001g0256	3	284	0.0106	560	c.411 others(577): Show c.4112+718_4112+719insAGCTGTGGTGGGTGAGGATGGGAAGGTG AGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATAGG AAGGTGAGCTGTGGCGGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCA CGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATG GGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCAGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293473	T T	TGCCACAG others(553): Show TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCCATC CTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCT CACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCC ACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCC CATCCTCACCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0176 a0006c0012t0001g0176	1	284	0.0035	560	c.411 others(577): Show c.4112+699_4112+700insGGGTGAGGATGGGAAGGTGAGCTGTGGC AGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGG ATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(553): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCCCCCTCCC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	256	0.0039	560	c.-45 others(581): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC CCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960284	C C	CATACATA others(553): Show CATACATATATACATATGTGTGTGTGTATACACATACATATATACATATG TGTGTGTATGCACATACATATATACATATGTGTGTGTGTATACACATACA TATATACATATGTGTGTATACACACATATATACATATGTGTGTATACACA TACATATATACATATGTGTGTGTATACACACATATATACATATGTGTGTG TATACACACACACATATGTATATATGTATGTGTATACACACACATATATG TATATATGTATGTGCATACACACACACACATGTATATATGTATGTGTATA CACATACATATATACATATGTGTGTGTATACACATACATATATACATGTG TGTGTGTATGCACATACACATATACATATATGTGTGTGTATACACATACA TATATACATATGTGTGTATACACACATATATACATATGTGTGTATACACA TACATATATACATATGTGTGTGTATACACACATATATACATATGTGTGTA TACACATACATATATACATATGTGTGTATACACACATATATACATGTGTG TGTATACACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0065 a0001c0007t0065	a0001c0007t0065g0118 a0001c0007t0065g0118	1	168	0.0060	560	c.253 others(579): Show c.253-58812_253-58811insATGTGTATACACACACATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACATATGTAT ATATGTGTGTATACACACACATATGTATATATGTATGTGTATACACACAT ATGTATATATGTGTGTATACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATGTGTATGTGCATACACACACACATGTATATATGT ATGTGTATACACACACATATGTATATATGTATGTGTATACACATACATAT ATACATGTGTGTGTGTGTATGCACATACATATATACATATATGTGTGTGT ATACACATACATATATACATATGTGTGTGTGTATACACACACATATGTAT ATATGTGTGTATACACACACATATGTATATATGTATGTGTATACACACAT ATGTATATATGTGTGTATACACACATATGTATATATGTATGTGTATACAC ACACACATATGTATATATGTATGTGCATACACACACATATGTATATATGT ATGTGTATACACACACACATATGTATATATGTAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(553): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 NA18947.hp2 NA18995.hp1 others(2): Show HG02896.hp1 NA18947.hp2 NA18995.hp1 NA19007.hp1 NA19077.hp1	a0002 a0013 a0025 others(1): Show a0002 a0013 a0025 a0026	a0002c0002 a0013c0022 a0025c0057 others(1): Show a0002c0002 a0013c0022 a0025c0057 a0026c0038	a0002c0002t0003 a0013c0022t0018 a0025c0057t0103 others(1): Show a0002c0002t0003 a0013c0022t0018 a0025c0057t0103 a0026c0038t0004	a0002c0002t0003g0231 a0002c0002t0003g0232 a0013c0022t0018g0188 others(2): Show a0002c0002t0003g0231 a0002c0002t0003g0232 a0013c0022t0018g0188 a0025c0057t0103g0321 a0026c0038t0004g0196	5	334	0.0150	560	c.-25 others(571): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(553): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 NA18953.hp2 HG00741.hp2 NA18953.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0015 a0002c0002 a0010c0015	a0002c0002t0030 a0010c0015t0015 a0002c0002t0030 a0010c0015t0015	a0002c0002t0030g0018 a0010c0015t0015g0063 a0002c0002t0030g0018 a0010c0015t0015g0063	2	334	0.0060	560	c.-25 others(571): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(553): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0070 a0006c0070	a0006c0070t0002 a0006c0070t0002	a0006c0070t0002g0153 a0006c0070t0002g0153	1	334	0.0030	560	c.-25 others(571): Show c.-2517_-2516insCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(553): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0121 a0001c0035t0001g0121	1	334	0.0030	560	c.-25 others(571): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24882188	A A	ATATATAG others(553): Show ATATATAGATACATCTATATAGATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATGTAGATACATCTAT ATATAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATAT GTAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATAT AGATACATCTATATAGATATATAGATACATCTATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATACATCT ATATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGAT ACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTAT ATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0006 a0006c0026t0006	a0006c0026t0006g0082 a0006c0026t0006g0082	1	440	0.0023	560	c.98 others(569): Show c.988_*989insGATGTATCTATATAGATGTATCTATATAGATGTATC TATATAGATGTATCTATATAGATGTATCTATATAGATGTATCTATATAGA TGTATCTATATAGATGTATCTATATAGATGTATCTATATAGATGTATCTA TATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATC TATATAGATGTATCTATATATCTATATAGATGTATCTATATATAGATGTA TCTATATATCTATATAGATGTATCTATATATAGATGTATCTACATATAGA TGTATCTACATATAGATGTATCTACATATAGATGTATCTACATATAGATG TATCTACATATAGATGTATCTATATATAGATGTATCTACATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATA TATCTATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		90		chr13	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(553): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAA AATATTTTATT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	402	0.0025	560	c.80- others(575): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(553): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTATATATAAA ATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAAT AAATATTTATTTAATATATAAAATAAATATTTATTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	2	402	0.0050	560	c.80- others(575): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATATA AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCTCCCCT others(553): Show TCTCCCCTCTTCCCCTCCTCCCCCTCTTCCTCCCCCTCCCCTCTTCCTCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCTCCCCCTCCCCCCCTCCCCTCTTCCTCCCCCCTCCCCCTC TTCCTCCCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCTCTTCCTCCCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCT CCTCTTCCTCCCCCTCCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTC CTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCT CTTCCTCCTCCACCTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTC TTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCT CCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0057	1	270	0.0037	560	c.162 others(581): Show c.1622-54505_1622-54504insTCCCCTCTTCCCCTCCTCCCCCTC TTCCTCCCCCTCCCCTCTTCCTCCCCTCCCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCTCCCCCTCCCCCCCTC CCCTCTTCCTCCCCCCTCCCCCTCTTCCTCCCCTCCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCTCTTCCT CCCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCC CCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCCTCCTC TTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACCTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCT CCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCC	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(553): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCAC CATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGC GTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGG CCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACATTCACCATGG GGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGCGTATCCGCAC AGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAGCCACATTCAC CATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGGGGGGCGTATC CACACAGCACA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	238	0.0042	560	c.635 others(577): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATACGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(553): Show CCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCAC CATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGC GTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATATCCGCACAGCGG CCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACATTCACCATGG GGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGCGTATCCGCAC AGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAGCCACATTCAC CATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGGGGGGCGTATC CACACAGCACA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0200 a0002c0004t0012g0200	1	238	0.0042	560	c.635 others(577): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCACGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CTDP1_chr18_79674803_79759503	79686892	G G	GCCAGTTC others(553): Show GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTTGTCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCAT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTAGGCCTGCACCAGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG01169.hp1 others(1): Show HG00099.hp1 HG01167.hp1 HG01169.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022	4	378	0.0106	560	c.314 others(577): Show c.314+6785_314+6786insGCTTCGTCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGT TGGCTTTGTCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCATGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGG TAGGCCTGCACCAGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGT TGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGG TGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGT TGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(553): Show GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCT GCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG02723.hp2 HG01106.hp1 HG02615.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0007 a0001c0021t0007 a0001c0001t0007 a0001c0021t0007	a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0021t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0021t0007g0341	3	378	0.0079	560	c.314 others(577): Show c.314+7111_314+7112insCCAGTTCACTGGTGGGCCTGCACCGGAG CAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTT CTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCA CTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCC TGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAG CAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTT CTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGACTTCGCCAGTTCA CTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCC TGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAG CAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTT CTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCACCAGTTCA CTGGTGGGCCTGCACCGCAGCAGTTGGCTTCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CUL4A_chr13_113204613_113272108	113232265	C C	CGCCCACC others(553): Show CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	396	0.0025	560	c.513 others(575): Show c.513-903_513-902insCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCT GCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP4F11_chr19_15907377_15939529	15932921	T T	TGGGCAGA others(553): Show TGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGGCAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0029 a0001c0004t0002g0029	1	386	0.0026	560	c.198 others(577): Show c.198+1289_198+1290insGCTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933245	G G	GAGAGGAA others(553): Show GAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGAAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0023 a0001c0004t0002g0023	1	386	0.0026	560	c.198 others(575): Show c.198+965_198+966insGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT GCCCACTCACTCATTTCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933272	A A	ATGAGTGA others(553): Show ATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0169 a0002c0001t0004g0169	1	386	0.0026	560	c.198 others(575): Show c.198+938_198+939insCTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTCCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DDX51_chr12_132131594_132149319	132149004	C C	CACACCAC others(553): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	560	c.-47 others(571): Show c.-4709_-4708insCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTGTGAGCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCACTCACCGAGG GGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4686		chr12	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(553): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAG TCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0178 a0002c0002t0002g0178	1	367	0.0027	560	c.-42 others(571): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(553): Show GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCACCCCCACCCCCACCCGCACCCGCACC CCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCG CACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCA CCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACC CGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCC CACCCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCGCACCCCCCACCCCCACCCGCACCCCCACCCCCACCCTCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCC TCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0082 a0001c0001t0010g0082	1	320	0.0031	560	c.39 others(571): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGGTGCGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGCGGGTGGGGGTGCGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGC GGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGG GGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DLGAP1_chr18_3491032_4460307	3740998	C C	CACCACCA others(553): Show CACCACCATCACCACCATCACCTCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCACCA TCACCACCACCACCACATCACCTCACCACCACCACCACCATCACCACCAC CATCACCACCATCACCTCACCACCACCACCACCATCACCTCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCAT CACCATCACCACCACCATCACCACCACCACCACATCACCATCACCATCAC CACCACCATCACCACCACATCACCACCACCACCACCACCACCACCACCAC CACCAAATCACCACCACCACCACCACATCACCATCACCACCACCACCATC ACCATCACCACCACAATCACCACCACCACATCACCATCACCACCACCACC ACCACCACATCACATCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACATCACCATCACCACCACCACCACCATCACCTCACCAC CACCACCACCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0014 a0001c0002t0030g0014	1	80	0.0125	560	c.135 others(579): Show c.1350+1336_1350+1337insTGGTGGTGGTGGTGGTGAGGTGATGG TGGTGGTGGTGGTGATGGTGATGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGTGATGTGGTGGTGGTGGTGGTGGTGAT GGTGATGTGGTGGTGGTGATTGTGGTGGTGATGGTGATGGTGGTGGTGGT GATGGTGATGTGGTGGTGGTGGTGGTGATTTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGTGGTGATGGTGATGGTG ATGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAGGTG ATGGTGGTGGTGGTGGTGAGGTGATGGTGGTGATGGTGGTGGTGATGGTG GTGGTGGTGGTGAGGTGATGTGGTGGTGGTGGTGATGGTGGTGGTGATGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGAGGTGATGGTGGTGATGGTGGT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DNAAF5_chr7_721699_791475	752354	G G	GTGATGAC others(553): Show GTGATGACGAAGCCTTTGTCACCGCGGGCCGGGCCACGCTTCCCTGGGTG CATCCTCAAAAGACTGCAGAGTGACGACGAAGCCTTCGTGACCGCGGGCT GGGCCACGCTTCGTGGGATACGTCCTCAAAAGACCACAGAGTGACGACGA AGCCTTTGTCACCACGGGCCAGGCCACACTTCCCTGGGTGCATCCTCAAA AGACTGCAGAGTGACGACGAAGCCTTCGTGACCACGGGCCGGGCCACACT TCGCGGGATACGTCCTCAAAAGACCACAGAATGATGACGAAGCCTTTGTC ACCGCGGGCCGGGCCACGCTTCCCTGGGTGCATCCTCAAAAGACTGCAGA GTGACGACGAAGCCTTCGTGACCACGGGCCGGGCCACACTTCGCGGGATA CGTCCTCAAAAGACCACAGAATGATGACGAAGCCTTTGTCACCGCGGGCC GGGCCACGCTTCCCTGGGTGCATCCTCAAAAGACTGCAGAGTGACGACGA AGCCTTCGTGACCACGGGCCGGGCCACACTTCGCGGGATACGTCCTCAAA AGACCACAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0142 a0005c0007t0003g0142	1	378	0.0027	560	c.102 others(579): Show c.1025-2143_1025-2142insGCGGGCTGGGCCACGCTTCGTGGGAT ACGTCCTCAAAAGACCACAGAGTGACGACGAAGCCTTTGTCACCACGGGC CAGGCCACACTTCCCTGGGTGCATCCTCAAAAGACTGCAGAGTGACGACG AAGCCTTCGTGACCACGGGCCGGGCCACACTTCGCGGGATACGTCCTCAA AAGACCACAGAATGATGACGAAGCCTTTGTCACCGCGGGCCGGGCCACGC TTCCCTGGGTGCATCCTCAAAAGACTGCAGAGTGACGACGAAGCCTTCGT GACCACGGGCCGGGCCACACTTCGCGGGATACGTCCTCAAAAGACCACAG AATGATGACGAAGCCTTTGTCACCGCGGGCCGGGCCACGCTTCCCTGGGT GCATCCTCAAAAGACTGCAGAGTGACGACGAAGCCTTCGTGACCACGGGC CGGGCCACACTTCGCGGGATACGTCCTCAAAAGACCACAGAATGATGACG AAGCCTTTGTCACCGCGGGCCGGGCCACGCTTCCCTGGGTGCATCCTCAA AAGACTGCAGAGTGACGACGAAGCCTTCGTGACC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(553): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATTTCTATATATGATATATATATC ATATATTTCTATATATGATATATATATCATATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATAT GATATATATATCATATATATGATATATATATCATATATTTCTATATATGA TATATATATCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	212	0.0047	560	c.316 others(579): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATTTCTATATATGATATATATATCATATATTTCTATATATGATAT ATATATCATATATATGATATATATATCATATATTTCTATATATGATATAT ATATCATATATATGATATATATATCATATATTTCTATATATGATATATAT ATCATATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATATGATATATATATCATATATATGATATATATATCATATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATATGAT ATATATATCATATATTTCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(553): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACACCACACCACACCAGACACCACACATACAGCACACACAC AAACACACCACACACACTACACTATATACCACACACACTCCAAACCCCAC ACACATTACACATCACACCACACACACACACACCAGATAACATACCACAC ACTACATACCACATGTACCACACACAACACACATCCGACATACCACACAC AGCACATACCACATACCACATTACATACCACACCACATACCACACATCCT ACATACCACATCATACACACCACACACAACACATACTACACACCCCACAG TACCACATACACCACATAACACACTACATGCCACACTTCTTCCATACATC ATACATACCACAAACATCACACAGCACACAGCACATACCACACATTCCAC ATACGACATCATACACACCACACACACTGCACATATTATACCAACACATC CCACATACCAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03453.hp2 HG01978.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0027 a0002c0026 a0001c0027 a0002c0026	a0001c0027t0027 a0002c0026t0026 a0001c0027t0027 a0002c0026t0026	a0001c0027t0027g0007 a0002c0026t0026g0006 a0001c0027t0027g0007 a0002c0026t0026g0006	2	38	0.0526	560	c.243 others(579): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGACACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACACACACCAGATAACATACCACACACTACATACCA CATGTACCACACACAACACACATCCGACATACCACACACAGCACATACCA CATACCACATTACATACCACACCACATACCACACATCCTACATACCACAT CATACACACCACACACAACACATACTACACACCCCACAGTACCACATACA CCACATAACACACTACATGCCACACTTCTTCCATACATCATACATACCAC AAACATCACACAGCACACAGCACATACCACACATTCCACATACGACATCA TACACACCACACACACTGCACATATTATACCAACACATCCCACATACCAT ATCATATACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(553): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACACCACACCACACCAGCCACCACACATACAGCACACACAC AAACACACCACACACACTACACTATATACCACACACACTCCAAACCCCAC ACACATTACACATCACACCACACACACACACACCAGATAACATACCACAC ACTACATACCACATGTACCACACACAACACACATCCGACATACCACACAC AGCACATACCACATACCACATTACATACCACACCACATACCACACATCCT ACATACCACATCATACACACCACACACAACACATACTACACACCCCACAG TACCACATACACCACATAACACACTACATGCCACACTTCTTCCATACATC ATACATACCACAAACATCACACAGCACACAGCACATACCACACATTCCAC ATACGACATCATACACACCACACACACTGCACATATTATACCAACACATC CCACATACCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp1 HG01071.hp2 others(17): Show HG00673.hp1 HG01071.hp1 HG01071.hp2 HG01433.hp2 HG01978.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02922.hp1 HG02965.hp1 HG03579.hp1 HG03579.hp2 NA18747.hp1 NA19043.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(16): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0025 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0014 a0002c0019 a0002c0022 a0002c0023 a0002c0028	a0001c0001t0001 a0001c0003t0008 a0001c0006t0002 others(17): Show a0001c0001t0001 a0001c0003t0008 a0001c0006t0002 a0001c0006t0003 a0001c0007t0005 a0001c0011t0003 a0001c0015t0017 a0001c0016t0013 a0001c0020t0001 a0001c0021t0011 a0001c0025t0001 a0002c0004t0004 a0002c0005t0015 a0002c0008t0012 a0002c0009t0004 a0002c0014t0025 a0002c0019t0001 a0002c0022t0023 a0002c0023t0014 a0002c0028t0002	a0001c0001t0001g0019 a0001c0003t0008g0025 a0001c0006t0002g0015 others(17): Show a0001c0001t0001g0019 a0001c0003t0008g0025 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0005g0038 a0001c0011t0003g0012 a0001c0015t0017g0036 a0001c0016t0013g0014 a0001c0020t0001g0010 a0001c0021t0011g0022 a0001c0025t0001g0018 a0002c0004t0004g0008 a0002c0005t0015g0011 a0002c0008t0012g0001 a0002c0009t0004g0004 a0002c0014t0025g0029 a0002c0019t0001g0021 a0002c0022t0023g0027 a0002c0023t0014g0017 a0002c0028t0002g0016	20	38	0.5263	560	c.243 others(579): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGCCACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACACACACCAGATAACATACCACACACTACATACCA CATGTACCACACACAACACACATCCGACATACCACACACAGCACATACCA CATACCACATTACATACCACACCACATACCACACATCCTACATACCACAT CATACACACCACACACAACACATACTACACACCCCACAGTACCACATACA CCACATAACACACTACATGCCACACTTCTTCCATACATCATACATACCAC AAACATCACACAGCACACAGCACATACCACACATTCCACATACGACATCA TACACACCACACACACTGCACATATTATACCAACACATCCCACATACCAT ATCATATACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(553): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACACCACACCACGCCAGACACCACACATACAGCACACACAC AAACACACCACACACACTACACTATATACCACACACACTCCAAACCCCAC ACACATTACACATCACACCACACACACACACACCAGATAACATACCACAC ACTACATACCACATGTACCACACACAACACACATCCGACATACCACACAC AGCACATACCACATACCACATTACATACCACACCACATACCACACATCCT ACATACCACATCATACACACCACACACAACACATACTACACACCCCACAG TACCACATACACCACATAACACACTACATGCCACACTTCTTCCATACATC ATACATACCACAAACATCACACAGCACACAGCACATACCACACATTCCAC ATACGACATCATACACACCACACACACTGCACATATTATACCAACACATC CCATATACCAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	38	0.0263	560	c.243 others(579): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACGCCAGACACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACACACACCAGATAACATACCACACACTACATACCA CATGTACCACACACAACACACATCCGACATACCACACACAGCACATACCA CATACCACATTACATACCACACCACATACCACACATCCTACATACCACAT CATACACACCACACACAACACATACTACACACCCCACAGTACCACATACA CCACATAACACACTACATGCCACACTTCTTCCATACATCATACATACCAC AAACATCACACAGCACACAGCACATACCACACATTCCACATACGACATCA TACACACCACACACACTGCACATATTATACCAACACATCCCATATACCAT ATCATATACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154093475	A A	ATACAGCA others(553): Show ATACAGCACACACAAACCACACACACAAACACAAACACCACACATACCAC GCACACCTACACCCAAAGACACTGTACACCATACACCACACTGTACACAC CACACACCACACCACACCAGCCACCACACATACAGCACACACACAAACAC ACCACACACACTACACTATATACCACACACACTCCAAACCCCACACACAT TACACATCACACCACACACACACACACCAGATAACATACCACACACTACA TACCACATGTACCACACACAACACACATCCGACATACCACACACAGCACA TACCACATACCACATTACATACCACACCACATACCACACATCCTACATAC CACATCATACACACCACACACAACACATACTACACACCCCACAGTACCAC ATACACCACATAACACACTACATGCCACACTTCTTCCATACATCATACAT ACCACAAACATCACACAGCACACAGCACATACCACACATTCCACATACGA CATCATACACACCACACACACTGCACATATTATACCAACACATCCCACAT ACCATATCATG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0021 a0002c0012t0021	a0002c0012t0021g0035 a0002c0012t0021g0035	1	38	0.0263	560	c.243 others(579): Show c.243+40416_243+40417insGCACACACAAACCACACACACAAACA CAAACACCACACATACCACGCACACCTACACCCAAAGACACTGTACACCA TACACCACACTGTACACACCACACACCACACCACACCAGCCACCACACAT ACAGCACACACACAAACACACCACACACACTACACTATATACCACACACA CTCCAAACCCCACACACATTACACATCACACCACACACACACACACCAGA TAACATACCACACACTACATACCACATGTACCACACACAACACACATCCG ACATACCACACACAGCACATACCACATACCACATTACATACCACACCACA TACCACACATCCTACATACCACATCATACACACCACACACAACACATACT ACACACCCCACAGTACCACATACACCACATAACACACTACATGCCACACT TCTTCCATACATCATACATACCACAAACATCACACAGCACACAGCACATA CCACACATTCCACATACGACATCATACACACCACACACACTGCACATATT ATACCAACACATCCCACATACCATATCATGTACA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154093495	A A	ACACACAA others(553): Show ACACACAAACACAAACACCACACATACCACGCACACCTACACCCAAAGAC ACTGTACACCATACACCACACTGTACACACCACACACCACACCACACCAG ACACCACACATACAGCACACACACAAACACACCACACACACTACACTATA TACCACACACACTCCAAACCCCACACACATTACACATCACACCACACACA CACACACCAGATAACATACCACACACTACATACCACATGTACCACACACA ACACACATCCGACATACCACACACAGCACATACCACATACCACATTACAT ACCACACCACATACCACACATCCTACATACCACATCATACACACCACACA CAACACATACTACACACCCCACAGTACCACATACACCACATAACACACTA CATGCCACACTTCTTCCATACATCATACATACCACAAACATCACACAGCA CACAGCACATACCACACATTCCACATACGACATCATACACACCACACACA CTGCACATATTATACCAACACATCCCACATACCATATCATATACACCACA CACAAACCACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0023 a0001c0018t0009g0023	1	38	0.0263	560	c.243 others(579): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGACACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACACACACCAGATAACATACCACACACTACATACCA CATGTACCACACACAACACACATCCGACATACCACACACAGCACATACCA CATACCACATTACATACCACACCACATACCACACATCCTACATACCACAT CATACACACCACACACAACACATACTACACACCCCACAGTACCACATACA CCACATAACACACTACATGCCACACTTCTTCCATACATCATACATACCAC AAACATCACACAGCACACAGCACATACCACACATTCCACATACGACATCA TACACACCACACACACTGCACATATTATACCAACACATCCCACATACCAT ATCATATACACCACACACAAACCACGCACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(553): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCT TCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCA CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCT CCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTC TTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTC CTCTTCTCCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	234	0.0043	560	c.489 others(579): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCC TTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCT TCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTT CTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCT CCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(553): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03490.hp1 HG03540.hp1 others(4): Show HG00438.hp1 HG03490.hp1 HG03540.hp1 NA18747.hp2 NA18956.hp2 NA18981.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0249 others(4): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0001g0289	7	334	0.0210	560	c.-10 others(579): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(553): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACGGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	334	0.0030	560	c.-10 others(579): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACGGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(553): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACGGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	334	0.0030	560	c.-10 others(579): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACGGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALR1_chr18_77244848_77282900	77259178	G G	GTGATCAT others(553): Show GTGATCATGGTGGTGATGGTGGTGATGGTGGTGGATGGTGGTGGTGGTCA CAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTGATGACGGTGGTGATG ATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGG TCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTG GTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGT GGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTG GTCATGGTGGTCATGGTGGTGATGATGGTCATGGTGGTGATGATGGTGAT CATGGTGGTGATGGTGGTGATGGTGGCGATTGTGATGGTGATGGTGGTGG TGGTGATGGTGGTGGGTAGTGATGGTGGTGGTGGTCATAGGGGTGGTGGT GATGATGGTCATGGTGGTGATGATGGTGGTCATGGTGGTCATGGTGGCGA TTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTT GGTGGTGGTCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	366	0.0027	560	c.732 others(577): Show c.732+2957_732+2958insATCATGGTGGTGATGGTGGTGATGGTGG TGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGT GGTGATGACGGTGGTGATGATGGTGGTCATGGTGGCGATTGTGGTGATGG TGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGT GGTCATGGTGGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGG TGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGT GGTGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTCA TGGTGGTGATGATGGTGATCATGGTGGTGATGGTGGTGATGGTGGCGATT GTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGGTAGTGATGGTGGTGG TGGTCATAGGGGTGGTGGTGATGATGGTCATGGTGGTGATGATGGTGGTC ATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGG TCACAGTGGTGGTGGTGTTGGTGGTGGTCATG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPR173_chrX_53043789_53085615	53074066	A A	ATAAATAT others(553): Show ATAAATATACATTTATATATAAATATATATAAATATACATGTATATTTAT TCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATAT ATAAATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	208	0.0048	560	c.-97 others(577): Show c.-97-2448_-97-2447insTTATATATAAATATATATAAATATACAT GTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTC ATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATAT ATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATAC ATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTAT TCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATAT ACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTT ATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(553): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATTTATA TTTATTTATTAATAAATATATATTTATATTTATTTATAAATAAATATATA TTAATATATATTTATATTTATTTATTAATAAATATATATAAATATATATA AATATATATTTATATTTATTTATAAATAAATATATATAAATATATATAAA TATATATTTATATTTATTTATAAATATATATTTATATTTATTTATATATA AATATATATAAATCTATATTTATAGTTATTTATATATAAATATATAAATC TATATATATAAATATAGATTTATATATATTTATATATAAATAACTATAAA TATAGATTTATATATATTTATATATAAATAACTATAAATATAGATTTATA TATATTTATATATAAATAACTATATAGATTTATATATATTTATATATAAA TAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATTTA TATATATTTATATATAAATAACTATATAGATTTATATATATTTATTTATA AATAACTATAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0142 a0001c0001t0033g0142	1	208	0.0048	560	c.-97 others(577): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATTTATATTTATTTATTAATAAATATATATTTATATTTATT TATAAATAAATATATATTAATATATATTTATATTTATTTATTAATAAATA TATATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATA TATAAATATATATAAATATATATTTATATTTATTTATAAATATATATTTA TATTTATTTATATATAAATATATATAAATCTATATTTATAGTTATTTATA TATAAATATATAAATCTATATATATAAATATAGATTTATATATATTTATA TATAAATAACTATAAATATAGATTTATATATATTTATATATAAATAACTA TAAATATAGATTTATATATATTTATATATAAATAACTATATAGATTTATA TATATTTATATATAAATAACTATATAGATTTATATATATTTATATATAAA TAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATTTA TATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	313971	C C	CCCCCACC others(553): Show CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA ATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCACCCTGTTGGAATCT TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA CCCCAGCCGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCT ATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCACCCT GTTGGAATCTTCCAGGGCTGAGAAGGGTCTCCTATCTCCTCAAATGCTAC CAGACGGAGCCCCCAGCCAGCCCCCACCCTGTTGGAATCTTCCAGGGCTG AGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCTGG ACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA ATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCT TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA CCCCAGCTGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	155	0.0065	560	c.757 others(575): Show c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG TCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC TCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCT CCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAA CAGGGTGGGGGCTGGCTGGGGGCTCCGTCTGGTAGCATTTGAGGAGATAG GAGACCCTTCTCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCGGCTGGG GTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGG AAGATTCCAACAGGGTGGGGTCCGGCTGGGGTCTCCGTCTCCTGGTAGCA TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG TCCGGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC TCAGCCCTGGAAGATTCCAACAGGGTGGGG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	5/9			chrX	TogoVar
HRAS_chr11_527242_540576	530858	G G	GAGAAGGG others(553): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGCC AGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTG GACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGT CCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTG TGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGG CCAGTGTGGCGTCCCCTGGACAGAAGGGCCAGTGTGGCGTCCCCTGGAGA GAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCC TGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGC GTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0022 a0001c0002t0008g0022	1	397	0.0025	560	c.16 others(571): Show c.1669_*1670insGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAG GGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT GTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTGGC CCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCTCC AGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTT CTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACACTC CCCCTTCTCTCCAGGGGACGCCACACTGGCCCTTCTGTCCAGGGGACGCC ACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGG GACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCT CCAGGGGACGCCACACTCGCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1383		chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(553): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCC CCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCC CCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCT CTCCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCC CTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCCT TCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTC TCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCT CCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0007 a0007	a0007c0049 a0007c0049	a0007c0049t0011 a0007c0049t0011	a0007c0049t0011g0036 a0007c0049t0011g0036	1	158	0.0063	560	c.11 others(581): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCC CCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCT CTCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCC TCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCC TCCCCCCTCTCCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCC CCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTC CCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTC CTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCT CTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA0930_chr22_45187244_45245894	45228913	A A	AAGATCCC others(553): Show AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGA GAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTC CACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATC ACCACTCACCCGAAAGATCCCTCTCCACCCTCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACC CGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTC CCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACTCACCTGAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0076 a0001c0001t0016g0076	1	398	0.0025	560	c.64+ others(577): Show c.64+11726_64+11727insCTCAGGTGAGTGGTTGGGGGGTGGAGAG GGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTG AGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCG GGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTT GGAGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGA GGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGG TGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGATGGGG AGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGGTTGGGGGGTGGAGAGGGATCT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240781109	A A	ACACACAC others(553): Show ACACACACACACACACACACAGCTCCACACACACACACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACAGCTCCACACACACAC ACACACACACAGCTCCACACACACACAGCTCCACACACACACACACAGCT CCACACACACACACACAGCTCCACACACACACACACAGCTCCACACACAC ACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACAC ACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACAC ACACACAGCTCCACACACACACAGCTCCACACACACACACACAGCTCCAC ACACACACACAGCTCCACACACACACACACACACACAGCGCCACACACAC ACAGCTCCACACACACACACACAGCTCCACACACACACAGCTCCACACAC ACACACACAGCTCCACACACACACACACACAGCTCCACACACACACACAC AGCTCCACACACACACAGCTCCACACACACACACACAGCTCCACACACAC ACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0174 a0001c0006t0007g0174	1	330	0.0030	560	c.882 others(577): Show c.882+1480_882+1481insGAGCTGTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGCGCTGTG TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar

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Search Results (Total: 10000 hits)