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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Select column to sort.

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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
TH_chr11_2158929_2176815	2161904	G G	GACCCCTG others(674): Show GACCCCTGTCCCACACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCAGGACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGACACCCCT GTCCCCAGACCCCTGGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCAGGACCCCTGTCCCCA CACCCTGTCCCCACAGACCCCTGTCCCCACACCCACCCCTGTCCCCACAC CCCTGTCCACCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCACAC CCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	388	0.0026	681	c.23 others(692): Show c.2328_*2329insTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGT GTGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGTGGACAGGGGT GTGGGGACAGGGGTGGGTGTGGGGACAGGGGTCTGTGGGGACAGGGTGTG GGGACAGGGGTCCTGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCCTGGGGACCAGGGGTCTGGGGACAG GGGTGTCGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC GGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTCCTGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGTGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2024		chr11	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(674): Show CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGA CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTC CCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCC CCACACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	388	0.0026	681	c.22 others(692): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCCCT others(674): Show GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGGTCAGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02698.hp2 HG01167.hp2 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0082 a0002c0003t0001g0054 a0001c0001t0001g0082 a0002c0003t0001g0054	2	94	0.0213	681	c.969 others(698): Show c.969-7696_969-7695insACTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG ATCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538980	T T	TGACCCCT others(674): Show TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGTGATCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGAGTCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCAATAGGTCA GAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGGTCAGAAGGAGCGTTGGCTACTAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	94	0.0106	681	c.969 others(698): Show c.969-7776_969-7775insCCTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGAGTCACTAGTAGCCAACGCTC CTTCTGACCTATTGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGA CTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(674): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTCTC CCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCC CCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCC TCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCC TCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	114	0.0088	681	c.-25 others(700): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTCTCC CCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCC CCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCT CCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCT CCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC CTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCC TCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(674): Show CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCG CCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCACCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCT CCCTGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCG CAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCT CTGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCC GCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGC CTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGC CGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCT CTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0315 a0001c0001t0004g0315	1	348	0.0029	681	c.519 others(696): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC AGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGC TGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCAG GGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG C	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CCACACAC others(674): Show CCACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCTACACACACCACACC CCATACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACCCCATACACACCACACA CCCTACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACACCCTACA CACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCTACACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCTACACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	338	0.0030	681	c.35 others(700): Show c.35+21565_*35+21566insACACACACCACACCCCATACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCTACACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACCCCACACACAC CACACCCCATACACACCACACACCCTACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACACCCTACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACAC CCTACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC TACACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530408	T T	TATATATT others(674): Show TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAACATA ATATATATTATTATATATAATTATATATAATAATATAATATATATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATATTATATA ATAATATAATATATATTATTATATATATTATATAATAATATAATATATAT TATTATATATTATTATATATAATTATATATAATAATATAATATATATAAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATAATATATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATATATATTATTATATATAAT TATATATAATATATATATATTATTATATATAATTATATATAATAATATAT ATATATTATTATATATAATTATATATAATAATATATATTATATTATTATA TATTATTATATATAATAATATAATATATTATTATATATTATTATATATAA TAATATAATATATATTATATATTATTATATATAATAATATAATATATATT ATATATTATTATATATAATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0153 a0001c0001t0001g0154	2	238	0.0084	681	c.392 others(698): Show c.392+6310_392+6311insTATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTATATTATTATATATAAT AATATATAATAATATAATATATATTATTATATATAATTATATATAATAAT ATATATATATTATTATATATAATTATATATAATAATATATATATATTATA TATAATTATATATAATAATATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATATATTATA TTATTATATATAATAATATATAATAATATATATTATATTATTATATATAA TAATATTATATATATTATATTATTATATATAATTATATATAATAATATAT AATAATATATATTATATTATTATATAATATATATAATAATATATATTATA TTATTATATAATATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATATATATTATATTATTATATATAATTATATATAATAATAT ATATTATGTTATTATATATAATAATATATAATAATATATATTATATTATT ATATATAATAATATATAATAATATATATTATATTATTATATATAATAATA TAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(674): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCCTCCCTTCCTTCCTTCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCC TCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTT CCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCC TTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTT CCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCC TCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	338	0.0030	681	c.246 others(700): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCCTCCCTT CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTT CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTT CCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCKL1_chr20_63934829_63961416	63948630	G G	GAGGGGTG others(674): Show GAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGG GCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGAGAGGG AGGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGTGAGGGAGGGGCGTGAG AGGGAGGGGCGTGTGTGAGGGGGGGCGTGTGTGAGAGGTAGGGGCGTGTG TGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAG GGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAG AGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGCGTGTGTGAGAGTG GGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGGCGTGTGTGAGAGGGAG GGGGCGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGT GTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAA GGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19081.hp1 NA19077.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	356	0.0056	681	c.114 others(698): Show c.114-1988_114-1987insTCTCACACACGCCCCTCCCTCTCACACG CCCCTTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTC TCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACG CCCCCTCCCTCTCACACACGCCCCTACCTCTCACGCCCCTCTCACACACG CCCCCACTCTCACACACGCCCCTCCCTTCACACACGCCCCTCCCTCTCAC ACACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCT CCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACAC GCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCCTCCCT CTCACACACGCCCCTACCTCTCACACACGCCCCCCCTCACACACGCCCCT CCCTCTCACGCCCCTCCCTCACACACACGCCCCTGCCTCTCACACACGCC CCCTCCCTCTCACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACAC ACGCCCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCCCTT TCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACACC CCT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
ZBTB34_chr9_126855639_126890878	126876191	C C	CCCCTTCC others(674): Show CCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTT CCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCTCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTC CCCCCTTTTCCCTTTCCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0046 a0001c0005t0024g0046	1	246	0.0041	681	c.-10 others(698): Show c.-10-3198_-10-3197insCCTTCCCCCTTCCCCCCTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTT CCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCC CCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABCA7_chr19_1035107_1070572	1049591	A A	AACCCCCC others(675): Show AACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGT GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGT GAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC ATGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCC GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCC CCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTC CCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCC CCGTGAACCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC CGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC CGTGAGTCCCCCGACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC CCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCT CCCTTTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC TCCCCGTGAGTCCCCCCACCACTCCCTCCCCGTGAACCCACCACTCCCTC CCCGTGAACCCCCCACCACTCCCTCCCCGTGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0002 a0006c0020t0002	a0006c0020t0002g0020 a0006c0020t0002g0020	1	30	0.0333	682	c.255 others(699): Show c.2552+154_2552+155insACCCCCCACCACTCCCTCCCCGTGAGCC CCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGG CCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAG GCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGA ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG AGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCG TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCG TGAACCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCCGTG AACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTG AACCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGT GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG TGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCACCACTCCCTCCC CGTGAACCCCCCACCACTCCCTCCCCGTGAGTCCCCCCACCACTCCCTCC CCGTGAACCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG TGAG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46			chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(675): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATA TCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATCAATATATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	306	0.0033	682	c.130 others(701): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(675): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0205 a0001c0004t0002g0205	1	249	0.0040	682	c.49- others(697): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(675): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTATTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0200 a0001c0004t0002g0200	1	249	0.0040	682	c.49- others(697): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTATTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(675): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCC CCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCAACACATCACCT CAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCA GTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGC CCACCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCC CCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAG CCCACCCCCCCCATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01517.hp2 HG01934.hp1 others(2): Show HG01358.hp2 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0076 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0076 a0001c0002t0001 a0001c0002t0002 a0001c0002t0056	a0001c0001t0001g0173 a0001c0001t0076g0171 a0001c0002t0001g0164 others(2): Show a0001c0001t0001g0173 a0001c0001t0076g0171 a0001c0002t0001g0164 a0001c0002t0002g0172 a0001c0002t0056g0155	5	337	0.0148	682	c.61+ others(697): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGGGGGGGGT GGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGG TGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGG GGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGTGG GCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGAC TGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(675): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	295	0.0034	682	c.52 others(693): Show c.5288_*5289insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(675): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCTGT TCCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGTGCCCGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCAGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACC GCGCCCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCT GGCCGGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGA CGCAGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	396	0.0025	682	c.94- others(697): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCGTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAGTTTA GATTTTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTATTT TGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATC TC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(675): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00738.hp1 others(15): Show HG00597.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01192.hp2 HG01255.hp1 HG01978.hp2 HG03688.hp1 HG03704.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18962.hp2 NA18966.hp2 NA18982.hp1 NA19064.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0006 a0002c0002t0026 a0002c0002t0044 a0005c0005t0008	a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0100 others(15): Show a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0003g0103 a0001c0001t0003g0130 a0001c0001t0005g0055 a0002c0002t0001g0050 a0002c0002t0001g0075 a0002c0002t0001g0109 a0002c0002t0006g0020 a0002c0002t0006g0047 a0002c0002t0006g0120 a0002c0002t0026g0119 a0002c0002t0026g0136 a0002c0002t0044g0046 a0005c0005t0008g0108	18	268	0.0672	682	c.-37 others(693): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
ARSF_chrX_3036471_3117727	3037096	A A	AATATATA others(675): Show AATATATATTATATATAAAATATATATAAAATATATATTATATATATTAT ATATAAAATATATAAAATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATAATATATATAATATATATATTATATA TATATAAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATTATAATTATATTATATATAATATATTATAT ATATTATATATATTATATTATATAAATTATATAATATATATAATATATAT AATATATATAATATATATAATATATATATATATATATATATATATATATT ATATATATTATATATATTATATATATATATATAATATATATAAAATATAT ATAATATATATAATATATATAATATATATAAAATATATATAATATATATA ATATATATATTATATATAAAATATATATCATATATATAATATATATATTA TATATAAAATATATATCATATATATAATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0040 a0001c0005t0001g0040	1	193	0.0052	682	c.-45 others(693): Show c.-4596_-4595insATATATATTATATATAAAATATATATAAAATATA TATTATATATATTATATATAAAATATATAAAATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATATATATAATATATATAATATATA TAATATATATATTATATATAAAATATATATAATATATATAATATATATAA TATATATATTATATATATATAAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATTATAATTATATTATA TATAATATATTATATATATTATATATATTATATTATATAAATTATATAAT ATATATAATATATATAATATATATAATATATATAATATATATATATATAT ATATATATATATATTATATATATTATATATATTATATATATATATATAAT ATATATAAAATATATATAATATATATAATATATATAATATATATAAAATA TATATAATATATATAATATATATATTATATATAAAATATATATCATATAT ATAATATATATATTATATATAAAATATATATCATATATATAATAATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4374		chrX	TogoVar
ATP9B_chr18_79064394_79383283	79336043	A A	ATGCCCTC others(675): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0292 a0001c0006t0004g0292	1	298	0.0034	682	c.202 others(699): Show c.2029-566_2029-565insCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCAC CAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336102	A A	ACCATGCC others(675): Show ACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCG TCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGC TCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCT GGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC CGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	298	0.0034	682	c.202 others(699): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACC AGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCC CTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGC ACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGC ACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCG CCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAG GTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCT CCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCAC CCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(675): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	298	0.0034	682	c.202 others(699): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCT CGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CA10_chr17_51625320_52163714	51899885	T T	TTGGTAGA others(675): Show TTGGTAGATTTTTCTTTTTTTCTTTTTTTTTTTGATGAGATCCTCACTGT TAGTTTAATGGTAGAGCCAGAACTCTTCCCCTTCCCCTCCTTTTCAATCA GCCCTCCAGAGATTTCTCTTAGCTGGGGCTAAGGCCCCTAATTTTGTTAT TTCTGTGACACTTAGTACTTTCCTTTATCACAGCCCTTATTTCATTATAT TTAAATAATTAGTTAATTGTGTCCCACCCCCTCCATACCCAGTCTGTGAA GGAAGCAGATCTTACTCATTTTTATGCCCTCAGTGCCTGGCACGGTCGGA GGCATTACTAAGTGTTCCATCAAAGTTTGCAGAATGATTTGAAGTGTAGT GTTCTTTTCACTGTTCCAGCTTGTAGTTTTAAACCATATTAGAAAGGAAT TTTAAGCAGGAATTTTAAGCAGAAATTTTATGATCTTCTCCAGTGGTTTT CAAACTGGGTTCCACATGCTTCTGAGAGTTGTTTTTTATTTTTTTTATTT ATTTATTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC CACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCC CCCTCCCCCGACCCCACCACAGTCCCCAGAGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0153 a0001c0001t0001g0069 a0001c0001t0001g0153	2	156	0.0128	682	c.279 others(701): Show c.279+31104_279+31105insCACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC ATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AATAAATAAATAAAAAAAATAAAAAACAACTCTCAGAAGCATGTGGAACC CAGTTTGAAAACCACTGGAGAAGATCATAAAATTTCTGCTTAAAATTCCT GCTTAAAATTCCTTTCTAATATGGTTTAAAACTACAAGCTGGAACAGTGA AAAGAACACTACACTTCAAATCATTCTGCAAACTTTGATGGAACACTTAG TAATGCCTCCGACCGTGCCAGGCACTGAGGGCATAAAAATGAGTAAGATC TGCTTCCTTCACAGACTGGGTATGGAGGGGGTGGGACACAATTAACTAAT TATTTAAATATAATGAAATAAGGGCTGTGATAAAGGAAAGTACTAAGTGT CACAGAAATAACAAAATTAGGGGCCTTAGCCCCAGCTAAGAGAAATCTCT GGAGGGCTGATTGAAAAGGAGGGGAAGGGGAAGAGTTCTGGCTCTACCAT TAAACTAACAGTGAGGATCTCATCAAAAAAAAAAAGAAAAAAAGAAAAAT CTACCA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(675): Show GGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0040 a0040	a0040c0100 a0040c0100	a0040c0100t0007 a0040c0100t0007	a0040c0100t0007g0111 a0040c0100t0007g0111	1	338	0.0030	682	c.300 others(699): Show c.300-9363_300-9362insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCG GGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGG GCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(675): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAACTTTATATATAAATATATATAATTATATAT ATATAATTTTATATATAAATATATATAATTATATATATTATATATAAATA TATATAAATATATATAATTATATATATTATATATAAATATATATAATTTT ATATATAATATATATAATTTTATATATTTATATATAAATATATATATAAT TTATATATAAATATATAAAATTATATATAAATATATATAATTTATATATA AATATATATAATTTATATATAAATATGTATAATTTTATATATATAAATAG ATATAATTTTATATATTTATTTATATAAATTTTATATATTTATATAAATA TATATTTATATATAAAAATTTATATACAAATATATATAAATATATACAAA TATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG03471.hp2 HG02818.hp1 HG02886.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0017 a0001c0001 a0001c0002 a0002c0017	a0001c0001t0002 a0001c0002t0001 a0002c0017t0008 a0001c0001t0002 a0001c0002t0001 a0002c0017t0008	a0001c0001t0002g0030 a0001c0002t0001g0021 a0002c0017t0008g0067 a0001c0001t0002g0030 a0001c0002t0001g0021 a0002c0017t0008g0067	3	116	0.0259	682	c.56- others(699): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAACTTTATATA TAAATATATATAATTATATATATATAATTTTATATATAAATATATATAAT TATATATATTATATATAAATATATATAAATATATATAATTATATATATTA TATATAAATATATATAATTTTATATATAATATATATAATTTTATATATTT ATATATAAATATATATATAATTTATATATAAATATATAAAATTATATATA AATATATATAATTTATATATAAATATATATAATTTATATATAAATATGTA TAATTTTATATATATAAATAGATATAATTTTATATATTTATTTATATAAA TTTTATATATTTATATAAATATATATTTATATATAAAAATTTATATACAA ATATATATAAATATATACAAATATATATATAAATTTATATAAATATATAT AAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(675): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGA GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0121 a0001c0008t0001g0121	1	342	0.0029	682	c.844 others(699): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAC GGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(675): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTATGTGTGCAGTGCATGTGTGCATGTTTGT GGAGGTGTATGCATGCGTGTGCATTTGTGAAGGTGTGTGAGTGTGTGCAC GTTTGTGGAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGT GTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGGTGTATGTGTGGA GGTGTGTGTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTAT GCATGCGTGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAG GTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGT ACACATGCGTGTGTGCATGTTTGTGGAGGTGTGTGTGTACGTGTGTGTGC ATGTTTGTGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGC ATGTGTGCATGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGT GGACGTGTGTGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGC GTGTATGCATGTTTGTGGAGGTGTGTGTGTGTACATGTGTGTATGCATGT TTGTGGAGGTGTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0014 a0014	a0014c0042 a0014c0042	a0014c0042t0013 a0014c0042t0013	a0014c0042t0013g0140 a0014c0042t0013g0140	1	158	0.0063	682	c.275 others(701): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACACCTCCACAAACATG CATACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACA CACGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATG CACACATGCACGTGCACACATACACACCTCCACACATACACATACCACCA CAAACATGCACACACACGTACACACACACCTCCACAAACATGCACACACG CATGTGTACACATATACACACCTCCACAAACATGCACACACACACGTGCA CACACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACA CGCATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACAC ACACACCTCCACACATACACCTCCACAAACATGCATACACACATTACACA CATACACACACCTCCACAAACATGCACACACACACGTGCACACACACCTC CACAAACGTGCACACACTCACACACCTTCACAAATGCACACGCATGCATA CACCTCCACAAACATGCACACATGCACTGCACACATACACACACCTCCAC ACATACACCTCCACAAACATGCATACACACATTACACACATACACACACC TCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(675): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAG GGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGG AGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGG GGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	216	0.0046	682	c.923 others(701): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCA CTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCT CCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCT TCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(675): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAG GGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGG AGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGG GGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0111 a0001c0001t0011g0111	1	216	0.0046	682	c.923 others(701): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCA CTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCT CCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCT TCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(675): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA CTATAACCATCACCACCGCTATAACCACCATCATCACCACCACTACCACT ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA CTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACT ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCACTAGCACCACCACCACTACTATAACCATCACCACCACTATAACCA CCATCACCACCACCACTACCACTACTATAACCATCACCACCACCACTGCT ATAACCATCACCACTACCACTACTACCACTACTACAACCATTACCACCAT CACTGCTATAACCACCACCACCACCACCATTATCACCATCACCATCACAC ACCACAACTACCACCACCACCACCATCACCACTATAACCACTAGCACCAC CACCACTACTATAACCATCACCACCGCTATAACCACCATCACCACCACCA CTACCACTACTATAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0088 a0001c0013t0013g0088	1	230	0.0044	682	c.724 others(701): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAG TTGTGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTAT AGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGA TGGTTATAGCAGTGGTGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTG GTGATGGTGGTTATAGTGGTGGTGATGGTTATAGTAGTGGTGGTGGTGCT AGTGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGATGG TTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATG GTTATAGTAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGT GATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGATGG TTACAGTAGTGGTAGTGGTGGTGATGATGGTGGTTATAGCGGTGGTGATG GTTATAGTAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGT GATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGATGG TTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251035	T T	TCACACCC others(675): Show TCACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACAT CCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCA CACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCC CCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACAC CCCCCACACCCCCACACCCCCACACACCCCCCACACCCCCCACACCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACCCC CACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACC CCCACACACCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCACACCCCCCCCACACCACACATCCC TCACACCCCCCACACCCCCACACCCCCCCCACACCCCCACACCCCCACAC ACCCCCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCC CCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACAC CCCCCACACCCCCACACACCCCCCACACCCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	116	0.0086	682	c.207 others(701): Show c.2073+1362_2073+1363insACACCCCCACACCCCCACACACCCCC CACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCA CACCCCCCACACCCCCCACACCCCCACACCCCCACACACCCCCCACACCC CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACA CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACCCCCACACACCCCCCACACCCCCCACACCCCCACACACC CCCCACACCACACATCCCCCACACCCCCCACACCCCCACACCCCCCCCAC ACCACACATCCCTCACACCCCCCACACCCCCACACCCCCCCCACACCCCC ACACCCCCACACACCCCCCACACCCCCACACCCCCACACACCCCCCACAC CACACATCCCCCACACCCCCCACACCCCCACACCCCCACACACCCCCCAC ACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCCCCACACAC CCCCCA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(675): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGG GCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAG GAGGAGGACAGGGTGTCACACTCGGTCACTCTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02717.hp1 HG03041.hp2 others(1): Show HG01346.hp1 HG02717.hp1 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 others(1): Show a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239	4	345	0.0116	682	c.150 others(701): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DHRS12_chr13_51762993_51809163	51775961	T T	TCTCCTAC others(675): Show TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAT TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCT CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTC TCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTAC AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTA CAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACA GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTAC AGTATTCTCCTACATGTATTCTACAGTATTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	420	0.0024	682	c.363 others(699): Show c.363+1098_363+1099insGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAG AATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAA TACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAAT ACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATAC TGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTG TAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACT GTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATAC TGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTG TAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTA GGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGT AGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTG TAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTA GGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	417622	G G	GCCTGTCA others(675): Show GCCTGTCAGGGTTCGAATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTC AAATAGGCCTCCCTGTCTGCCTGCGCCTGTCAGAGCTCGGACAGGCCTCC CTGTCCACCTACACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGT TCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGC TTCGATAGGCCTCCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCT CCCTGTCCACCTGCACCTGTCAGGGCTCGGACAGGCCTCCCTGTCCACCT GCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTACACCTGTCAGG GCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGC CTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCAC CTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGTCA GAGCTCGGACAGGCCTCCCTGTCCACCTACACCTGTCAGGGCGCGGACAG GCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCC ACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGT CAGAGCTCGGACAGGCCTCCCTGTCCACCTGCA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	88	0.0114	682	c.739 others(699): Show c.739+1442_739+1443insTGCAGGTGGACAGGGAGGCCTGTCCGAG CTCTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAA CAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACAGG GAGGCCTGTCCGCGCCCTGACAGGTGTAGGTGGACAGGGAGGCCTGTCCG AGCTCTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGG AACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACA GGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACAGGGAGGCCTGTC CGCGCCCTGACAGGTGTAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACA GGTGCAGGTGGACAGGGAGGCCTGTCCGAGCCCTGACAGGTGCAGGTGGA CAGGGAGGCCTGTCCGAGCTCTGACAGGTGCAGGTGGACAGGGAGGCCTA TCGAAGCCCTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGCCCTGA CAGGAACAGGTGGACAGGGAGGCCTGTCCGCGCCCTGACAGGTGTAGGTG GACAGGGAGGCCTGTCCGAGCTCTGACAGGCGCAGGCAGACAGGGAGGCC TATTTGAGCCGACAGGCACAGGCGGACAGGGAGGCCTATTCGAACCCTGA CAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(675): Show AGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGA GGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGGAGGGGGGAGGAGGAGGG GGGAGGAGGGGGGGGAGGGGGGGAGGAGGGGGGGGAGGAGGGGGGAGGAG GGGGGAGGAGGAGGGGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGG GAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGG AGGAGGGGGGAGGAGGGGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGG GGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGG GAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAG GAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGG GAGGAGGGAGGGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG GAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGA GGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGAGGAGGAGGGAGGAGGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0104 a0104	a0104c0072 a0104c0072	a0104c0072t0001 a0104c0072t0001	a0104c0072t0001g0132 a0104c0072t0001g0132	1	252	0.0040	682	c.118 others(701): Show c.11806-562_11806-561insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCCCTCCCCCTCCCCCTC CCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCCCTC CCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCC CCTCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTC CCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCCTC CTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCTCCCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCC TCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(675): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGA GGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTAT GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAG GTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTG TGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT GGAGTGTGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTG TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0141 a0001c0027t0001g0141	1	192	0.0052	682	c.441 others(701): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGGGTGTGTGTGTG TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGT GTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATG TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA GAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG ATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTA GAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGT AGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGG TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTG TGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(675): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGA GGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTAT GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAG GTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTG TGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT GGAGTGTGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTG TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0060 a0001c0028t0001g0060	1	208	0.0048	682	c.446 others(701): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGGGTGTGTGTGTG TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGT GTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATG TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA GAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG ATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTA GAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGT AGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGG TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTG TGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(675): Show TAATTATATATTATATATAATTATATATTATATATAATATATAATTATAT ATTATATATAATATATAATTATATATAATATATAATATATTATATATTAT ATATATTATATAAAATATAATATATTATATATAATTATATATTATATATT ATATATAATATATAATTATATGTTATATATTATATATATTATATATTATA TATATATTATATATATAATATATATTATATATTAAATTATATATAATATA TATTATATATATAATTTATATATATAAAATATATTATATATTATATAAAT ATATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGA AATGTATATTATATAATATATAATTATATATAATTATATATATAATTATA TATTATATAATATATATTTCTATATTATATATTTATAATGTATAATATAT AAATATATTATAAATATATATTATATACTATATAATGCATTATAAATATA TTATATTTATATATTATAAATATATTACATATTTATATATTATATATATA ATATATATATTATATATTATAAATATATTTTATAAAATATAATATATATA TTATATATTATATATTATAAATATATTTTATAAAATATAATATATATATT ATATATTATATTTTATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	220	0.0046	682	c.551 others(701): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATATATAATATATATATTATATTTTATAAAATATATTTATAATATATAA TATATAATATATATATTATATTTTATAAAATATATTTATAATATATAATA TATATATTATATATATAATATATAAATATGTAATATATTTATAATATATA AATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATAA TATATTTATATATTATACATTATAAATATATAATATAGAAATATATATTA TATAATATATAATTATATATATAATTATATATAATTATATATTATATAAT ATACATTTCTATATTATATATTATAAAATATATATTTTATATATATAAAA TATATATATTTATATAATATATAATATATTTTATATATATAAATTATATA TATAATATATATTATATATAATTTAATATATAATATATATTATATATATA ATATATATATAATATATAATATATATAATATATAACATATAATTATATAT TATATATAATATATAATATATAATTATATATAATATATTATATTTTATAT AATATATATAATATATAATATATTATATATTATATATAATTATATATTAT ATATAATATATAATTATATATTATATATAATATATAATTATATATAATAT ATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EFNA2_chr19_1280873_1306431	1282350	A A	AGGGAGGG others(675): Show AGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGGAGAAG GGTGGGAAAGGGAGGAAGGAGAGGAGAGGAAGGGAGGAGGGAGGGGAAGG TGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGG AGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGG AGGGAGGGAGGAGGGTGTGAAGGAGGAGGGGGGAGGGTGTGAAGGGAAGA GGGAGGGGAGGAGGGAGGGAGGGAGGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGGTGTGAAGGGAGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAG GGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAG GGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTTGAAGGGAGGAAGGAGGG GAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGA GGAGGGTGTGAAGGGAGGAGGGGGAGGGAGGAGGTGTGAAGGTGTGAAGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGAGGATTGGA AAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTAT TAATGGGGAAGAAGAGAGTGGAAGGGGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	294	0.0034	682	c.-38 others(693): Show c.-3819_-3818insGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGG AGGGAGGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGGAGAGGAAGGGA GGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAA GTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGT GGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGAGGAGGGGGGAG GGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGGAGGGGTGTGAAG GGAGGAGGGAGGGGAGGAGGGGTGTGAAGGGAGAAGGAGGGGAGGAGAGG GAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGT GAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTTGA AGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAG GAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGAGGGAGGAGGT GTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAG GGAGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAG GAAGGGAGGGGGTATTAATGGGGAAGAAGAGAGTGGAAGGGGGAGGAG	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3522		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(675): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGA GGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGG GTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGG AGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAG GAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGG AAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGA GAGGAAGGAAGGGAGGGGGGTATTGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	682	c.35 others(693): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGGAGGAGGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGG AGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGG GAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGG TGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FOXK2_chr17_82514732_82609602	82586259	G G	GGGGAAAG others(675): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAATGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAATGGAGGA GAATGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTCAAAGGTAGGCGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0004 a0007c0025t0004	a0007c0025t0004g0304 a0007c0025t0004g0304	1	308	0.0033	682	c.157 others(697): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGGAATGGAGGAGAATGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAG GG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(675): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0042 a0001c0001t0031g0042	1	204	0.0049	682	c.240 others(701): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATT TGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(675): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	204	0.0049	682	c.240 others(701): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(675): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	204	0.0049	682	c.240 others(701): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GMDS_chr6_1618806_2250605	1898047	T T	TCCCTTGC others(675): Show TCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACA CCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTG CCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCC TGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCT GGACACCTACCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCAC CCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACC TATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCC ATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTG GCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGG ACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCC TTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTA TCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCACCCTTGCCAT CCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	166	0.0060	682	c.771 others(701): Show c.771+32055_771+32056insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCCAGGATAGGT GTCCAGGATGGCAAGGGTGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAG GCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGG ATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGG TAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCCAGGATAGGTGT CCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGC CAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGAT GGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGGTA GGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGG GAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCC AGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCA GGATAGGTGTCCAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGG CAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898140	T T	TCCCTTGC others(675): Show TCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACA CCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTG CCATCCTGGACACCTACCCTGGTCTCCCTTGCCATCCTGGACACCTATCC TGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCT GGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTC CCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACC TACCCTGGTCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCC ATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTACCCTG GCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGG ACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCC TTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTA TCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCAT CCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	166	0.0060	682	c.771 others(701): Show c.771+31962_771+31963insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGT GTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAG GCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGG ATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGA TAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAA GGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGT CCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGAC CAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGAT GGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTA GGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGG GAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGACCAGGGTAGGTGTCC AGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCA GGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGG CAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPIHBP1_chr8_143208218_143222170	143218146	C C	CCACACCA others(675): Show CCACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCCAACAC CACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACC ACCCCCAACACCACCCCAACACCACCCCAACACCACCCAACACCATCCCC CACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCCACACCA CCCAACACCGCCCCCAACACCACCCCCAACACCACCCCAACACCACCCCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCACACCACCCCCAACACCACCCCAACACCACCCCACACCAC CCCCAACACCACCCCCACACCACCCCCAACACCACCCCCACACCACCCCC AACACCACCCCCAACACCACCCCCCACACCACCCCCAACACCACCCCCAC ACCACCCCCAACACCACCCCAACACCACCCCACACCACCCCCAACACCAC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCACACCACCCCCA CACCACCCCCAACACCACCCCACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	682	c.26 others(693): Show c.2628_*2629insCACACCACCCCCAACACCACCCAACACCACCCCA CACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACAC CACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCC AACACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACCA CCCAACACCATCCCCCACACCACCCCCAACACCACCCAACACCACCCCAC ACCACCCCCACACCACCCAACACCGCCCCCAACACCACCCCCAACACCAC CCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCAAC ACCACCCCACACCACCCCCAACACCACCCCCACACCACCCCCAACACCAC CCCCACACCACCCCCAACACCACCCCCAACACCACCCCCCACACCACCCC CAACACCACCCCCACACCACCCCCAACACCACCCCAACACCACCCCACAC CACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACC CCCACACCACCCCCACACCACCCCCAACACCACCCCACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		977		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATACATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0180 a0001c0001t0044g0180	1	208	0.0048	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATACATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(675): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATAAATATATATATTTATATTTATATA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	208	0.0048	682	c.-97 others(699): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATAAATATATATATTTATAT TTATATATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)