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
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(652): Show TTATATATATAAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATAAAAATTATATATATTATATATATAAAAATT ATATATATATTATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATAATATATA TATAAAAATTATATATATAATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTGTATATATATAAAAATTATATATATATTGTATATATATAAAAATTAT ATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	272	0.0037	659	c.29 others(670): Show c.2923_*2924insTATATATATAAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATAAAAATTATATATATT ATATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATAATATATATATAAAAATTATATATATAATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTGTATATATATAAAAATTATATATATATTGTAT ATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(652): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCGTCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCGT CATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCTA AAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACC CCCACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0099 a0003c0003t0001g0099	1	224	0.0045	659	c.225 others(678): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTCTTTACGA GTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGG TCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGG TATGACGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGAC GGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCCCT others(652): Show CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCT CTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCT CTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCT CCTCTCTCCTCCCCTCCCCTACCCTCTCTCCTCCGCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTC CTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCT CTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCC CTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCC TTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG01884.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0033 a0001c0002t0031 a0001c0002t0033	a0001c0002t0031g0065 a0001c0002t0033g0066 a0001c0002t0031g0065 a0001c0002t0033g0066	2	202	0.0099	659	c.53 others(670): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGTAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTG GAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(652): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0095 a0001c0001t0011g0095	1	246	0.0041	659	c.-10 others(676): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCC CTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(652): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACGTATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATACGTATATATACATATATACGTATATATACATATATACGTATATATA TACGTATATATACATATATACGTATATATACATATATACGTATATATATA CGTATATATACATATATACGTATATATATATACGTATATATACATATATA CATGTATATATATATACGTATATATACATATATACATGTATATATATATA CGTATATACACATATATATACATGTATATATATGTGTATATATACATGTA TATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	383	0.0026	659	c.-42 others(670): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACGTATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATACGTATATATACATATATACGTATATATACAT ATATACGTATATATATACGTATATATACATATATACGTATATATACATAT ATACGTATATATATACGTATATATACATATATACGTATATATATATACGT ATATATACATATATACATGTATATATATATACGTATATATACATATATAC ATGTATATATATATACGTATATACACATATATATACATGTATATATATGT GTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CGTATACG others(653): Show CGTATACGTATACGTGTACACACGTATACGTATACGTGTACACACGTATA CACGTATATACGTATACGTGTACACACGTATACACGTATATACGTATACG TGTACACACGTATACACGTATATACGTATACGTGTACACACATATATACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0078	a0001c0002t0078g0152 a0001c0002t0078g0152	1	169	0.0059	660	c.48- others(677): Show c.48-70750_48-70749insGTATACGTATACGTGTACACACGTATAC GTATACGTGTACACACGTATACACGTATATACGTATACGTGTACACACGT ATACACGTATATACGTATACGTGTACACACGTATACACGTATATACGTAT ACGTGTACACACATATATACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTATACGTGTACACACACATACACGTAT ATACGTATACGTGTACACACATATACGTATACGTGTACACACATATACAC GTATACGTGTACACACATATACACGTATACGTGTACACACATATACACGT ATATACGTATACGTGTACACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
AP2A2_chr11_920870_1017240	980133	C C	CTGCCCGG others(653): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCC CGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGA GCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCC GGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAG CGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0099 a0001c0006t0018g0099	1	268	0.0037	660	c.604 others(675): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP2_chr2_9201812_9410678	9406194	T T	TGTGTCAC others(653): Show TGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCC TCAGGCCTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	210	0.0048	660	c.28 others(671): Show c.2867_*2868insGTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGTCTTCCTCAGGCCTTCA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		517		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406510	T T	TCTTCCTC others(653): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAG TGTGTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTC AGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0125 a0002c0001t0010g0125	1	210	0.0048	660	c.31 others(671): Show c.3183_*3184insCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGG CCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCT TCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGG CTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		833		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758253	A A	ACTCATTC others(653): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCTATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTAT CACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTA ACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0174 a0008c0006t0001g0174	1	300	0.0033	660	c.655 others(679): Show c.655-22113_655-22112insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATAGG AATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGT GATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATG AGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(653): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	298	0.0034	660	c.955 others(677): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(653): Show TGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	298	0.0034	660	c.955 others(677): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200750	T T	TGGAGGTG others(653): Show TGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	298	0.0034	660	c.955 others(677): Show c.955-6175_955-6174insTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACT GTCGGGGTCAGAGCAGAGGCGGAGGTGGGAAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(653): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCC CCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	660	c.36 others(671): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(653): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGG GGAAGGGGGAGCGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGA AGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGA GGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGG GGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01934.hp1 HG01069.hp2 HG01071.hp2 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	3	300	0.0100	660	c.-70 others(669): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAG GGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAG GAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGG GGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C1QTNF12_chr1_1237453_1251722	1248905	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp2 NA20129.hp2 HG03453.hp2 HG03471.hp2 NA20129.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0022 a0004c0003t0001g0087 a0004c0003t0001g0022 a0004c0003t0001g0087	3	328	0.0092	660	c.-22 others(671): Show c.-2216_-2215insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2184		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 NA18985.hp2 others(3): Show HG00423.hp1 HG00438.hp2 NA18985.hp2 NA19007.hp2 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0014t0001 a0001c0001t0001 a0001c0001t0003 a0001c0014t0001	a0001c0001t0001g0001 a0001c0001t0003g0010 a0001c0014t0001g0017 a0001c0001t0001g0001 a0001c0001t0003g0010 a0001c0014t0001g0017	6	328	0.0183	660	c.-23 others(671): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18974.hp2 NA19000.hp2 others(1): Show NA18747.hp2 NA18974.hp2 NA19000.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0009g0118	4	328	0.0122	660	c.-23 others(671): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCT CCCACTCCACCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	328	0.0031	660	c.-23 others(671): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGTGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TAGGTGTA others(653): Show TAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTG TATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACA TACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACGTA TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATA CATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACG TATACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACA TATCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTG TATACAGATCTGTATACAGATGTATACAGATCTGTATACAGATGTATACA GATCTGTATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	342	0.0029	660	c.366 others(677): Show c.366+3806_366+3807insGTATACAGATCTGTATACATCTGTATAC AGATCTGTATACATCTGTATACAGATCTGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATAC ACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTAT GTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATAC GTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGT ATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAG ATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGT ATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGT ATGTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTAT ACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCT ATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTAT ACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTAT GTATACAGATATGTATACGTATGTATACACCT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(653): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATATAATTATATATATTATATAA TTTTATATATATAATTATATATATTATATAATTATATATATAATTTTATA TATATATAATTATATATACAATTTTATAATATATATAATTATATATACAA TTATATATATATATAATTATATATATATAATTGTATATATAATTTTATAT ATATAATTATATATAATTTTATATATATATAATTATATATATAATTATAT ATATATAATTATATATATTTATATATATATATAATTATATATATAATTTT ATATATATAATTTTATATAATTTTATATATAATTATATATATAATTTTAT ATATATAATTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18970.hp2 NA18983.hp1 others(1): Show HG02040.hp1 NA18970.hp2 NA18983.hp1 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0048 a0003c0003t0001g0061 a0003c0003t0001g0175 others(1): Show a0003c0003t0001g0048 a0003c0003t0001g0061 a0003c0003t0001g0175 a0003c0003t0001g0177	4	330	0.0121	660	c.907 others(675): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATAATATATATAATTATATATATATAAAATTA TATATATAATTATATATAAAATTATATATATAATTATATATAAAATTATA TATATAATTATATATAAAATTATATATATAATTATATATAAAATTATATA TATAATTATATATAAAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATATAATTATATATA TATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(653): Show ATATATATATAATTATATATACAATTTTATATATATATAATTTTATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATATAATTATATATATTATATAA TTTTATATATATAATTATATATATTATATAATTATATATATAATTTTATA TATATATAATTATATATACAATTTTATAATATATATAATTATATATACAA TTATATATATATATAATTATATATATATAATTGTATATATAATTTTATAT ATATAATTATATATAATTTTATATATATATAATTATATATATAATTATAT ATATATAATTATATATATTTATATATATATATAATTATATATATAATTTT ATATATATAATTTTATATAATTTTATATATAATTATATATATAATTTTAT ATATATAATTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	330	0.0030	660	c.907 others(675): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATAATATATATAATTATATATATATAAAATTA TATATATAATTATATATAAAATTATATATATAATTATATATAAAATTATA TATATAATTATATATAAAATTATATATATAATTATATATAAAATTATATA TATAATTATATATAAAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATAAAATTATATATA TATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(653): Show TCACACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC TCACATACAGACACAACCACACCACACACACACACACACACTCACATACA GACACAACCACACCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACTCAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACT CACATACAGACACAACCACACCACACACACACACACTCACATACAGACAC AACCACACCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACATATACACACTCACATAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0185 a0003c0003t0002g0185	1	460	0.0022	660	c.193 others(677): Show c.1938+598_1938+599insCACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACTCACATACAGACACAACCACACCACACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACACTCACATACAGACACAACCACACCACACACACACACACTCA CATACAGACACAACCACACCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACATATACACACTCACATAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACTCACATACAGACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(653): Show TCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACACTC ACATACAGACACAACCACACCACACACACACACACACACACTCACATACA GACACAACCACACCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACTCAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACTCA CATACAGACACAACCACACCACACACACACACACACTCACATACAGACAC AACCACACCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACATACACACTCACATAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0333 a0003c0003t0002g0333	1	460	0.0022	660	c.193 others(677): Show c.1938+598_1938+599insCACTCACATACAGACACAACCACACCAC ACTCACACACACACATACACACTCACATACAGACACAACCACACCACACA CACACACACTCACATACAGACACAACCACACCACACACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACACTCA CATACAGACACAACCACACCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACATACACACTCACATAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACTCACATACAGACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC63_chr12_110841987_110912535	110905890	A A	AATATTAT others(653): Show AATATTATATATAATATATATTATATTATATATAATATATATTATATATA ATATATATTATATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATATAATATATATTATATAAAATATATATTATATTA TATAATATATATTATATAAAATATATATTATATTATATAATATATATTAT ATAAAATATATATTATATTATATATAATATATATTATAATATAATATATA TTATATATAATATATATTATATATAATATAATATATATTTTATAAAATAT ATATTATATATAATATAATATATATTTTATATAATATATATTATATATAA TATAATATATATTTTATATAATATATATTATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATAAAATATATAT TTTATATAATATATATTATATAATATAATATATATTTTATATAATATATA TTATATATAATATATATTTTATATAATATATATTATATAATATAATATAT ATTATTATATAATATATTATTATAATATATAATATATATTATATTATATA ATATATAATATAATAATATAATATATATTTTATAAAATATATATTATATT ATATATAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0002 a0014c0018t0002	a0014c0018t0002g0189 a0014c0018t0002g0189	1	288	0.0035	660	c.154 others(679): Show c.1546+1146_1546+1147insTAATATATATTATATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTATATAAAATATATATTATATTATATA TAATATATATTATAATATAATATATATTATATATAATATATATTATATAT AATATAATATATATTTTATAAAATATATATTATATATAATATAATATATA TTTTATATAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATAAAATATATATTTTATATAATATATATTATATAAT ATAATATATATTTTATATAATATATATTATATATAATATATATTTTATAT AATATATATTATATAATATAATATATATTATTATATAATATATTATTATA ATATATAATATATATTATATTATATAATATATAATATAATAATATAATAT ATATTTTATAAAATATATATTATATTATATATAATATATATTATATATAA TATATATTATATTATATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(653): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGA GTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCAC TACCACGCCCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01952.hp1 HG02965.hp1 others(3): Show HG00609.hp2 HG01952.hp1 HG02965.hp1 HG03225.hp2 NA19011.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0048 a0001c0009t0075 a0002c0002t0001 others(1): Show a0001c0009t0048 a0001c0009t0075 a0002c0002t0001 a0002c0002t0002	a0001c0009t0048g0273 a0001c0009t0075g0195 a0002c0002t0001g0162 others(3): Show a0001c0009t0048g0273 a0001c0009t0075g0195 a0002c0002t0001g0162 a0002c0002t0001g0173 a0002c0002t0001g0184 a0002c0002t0002g0036	6	324	0.0185	660	c.110 others(677): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGG TTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CFAP46_chr10_132803392_132947570	132914022	C C	CCCCCGGC others(653): Show CCCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCG CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	246	0.0041	660	c.212 others(677): Show c.2121-765_2121-764insTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGG GGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGG GTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGAC ACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG TGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACA CAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGT GCAGTGTGGCTGGACACAGCCTCGGGCCGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914259	G G	GCCCGAGG others(653): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0158 a0013c0022t0001g0158	1	246	0.0041	660	c.212 others(679): Show c.2121-1002_2121-1001insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
COL22A1_chr8_138583235_138919041	138742284	T T	TGGTGATG others(653): Show TGGTGATGGTGGTAGTGATTGTGATGGTGATGGTGGAGTTGATGGTGATG GTGCTAGTGATCGTGATGGTGATGGTGGAGTTGATGGTGATGATGATGGT AGAGTTGATGATGATGGTAGTAGTGATTGTGATGGTGGAGTTGATGGTGA TGGTAGAGTTGATGATGGTACTAGTGATTGTGATGGTGATGGTGGAGTTG ATGGTGATGGTGATGGTAGAGTTGATGATGATGGTAGTAGTGATTGTGAT GGTGGAGTTGATGAGGGTGATGGTGGTAGTGATAGTGATGATGATGGTGG AGTTGATGGTGATGGTGATGGTGGAGTTGAGGGTGATGGTGGTAGTGATT GTGATGGTGATGGTGGAGTTGATGGTGATGGTGCTAGTGATCGTGATGGT GATGGTGGAGTTGATGGTGATGATGATGGTAGAGTTGATGATGATGGTAG TAGTGATTGTGATGGTGGAGTTGATGGTGATGGTAGAGTTGATGATGGTA CTAGTGATTGTGATGGTGATGGTGGAGTTGATGGTGATGGTGATGGTAGA GTTGATGATGATGGTAGTAGTGATTGTGATGGTGGAGTTGATGAGGGTGA TGGTGGTAGTGATAGTGATGATGATGGTGGAGTTGATGGTGATGGTGATG GTGGAGTTGAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	158	0.0063	660	c.208 others(679): Show c.2086-4708_2086-4707insCTCAACTCCACCATCACCATCACCAT CAACTCCACCATCATCATCACTATCACTACCACCATCACCCTCATCAACT CCACCATCACAATCACTACTACCATCATCATCAACTCTACCATCACCATC ACCATCAACTCCACCATCACCATCACAATCACTAGTACCATCATCAACTC TACCATCACCATCAACTCCACCATCACAATCACTACTACCATCATCATCA ACTCTACCATCATCATCACCATCAACTCCACCATCACCATCACGATCACT AGCACCATCACCATCAACTCCACCATCACCATCACAATCACTACCACCAT CACCCTCAACTCCACCATCACCATCACCATCAACTCCACCATCATCATCA CTATCACTACCACCATCACCCTCATCAACTCCACCATCACAATCACTACT ACCATCATCATCAACTCTACCATCACCATCACCATCAACTCCACCATCAC CATCACAATCACTAGTACCATCATCAACTCTACCATCACCATCAACTCCA CCATCACAATCACTACTACCATCATCATCAACTCTACCATCATCATCACC ATCAACTCCACCATCACCATCACGATCACTAGCACCATCACCATCAACTC CACCATCACCATCACAATCACTACCACCATCACC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178525250	A A	AGGACCCG others(653): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02486.hp2 NA20805.hp1 HG01943.hp1 HG02486.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0004 a0001c0004t0001 a0002c0002t0001 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001	a0001c0001t0004g0098 a0001c0004t0001g0042 a0002c0002t0001g0031 a0001c0001t0004g0098 a0001c0004t0001g0042 a0002c0002t0001g0031	3	236	0.0127	660	c.361 others(679): Show c.361+35431_361+35432insCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
CPNE4_chr3_131528569_132040014	131978386	T T	TTATATAT others(653): Show TTATATATATATATTTATATATTTATATATATTTATATATATATTTATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	94	0.0106	660	c.-2+ others(677): Show c.-2+56180_-2+56181insTAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATATAAATATATA AATATATATATAAATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATATAAATATATA AATATATATATAAATATATATAAATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(653): Show TCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTA CAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACA ACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGA GTAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGAC CCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTAC CCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGT CTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCC CTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTC AGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAA CCCTACAGTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0134	1	159	0.0063	660	c.811 others(677): Show c.811-1792_811-1791insCCTGGCGGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAG TAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCC TACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGG TGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGA CCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAC TCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15933012	A A	ATGAGTGA others(653): Show ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGA ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0140 a0001c0002t0020g0140	1	386	0.0026	660	c.198 others(677): Show c.198+1198_198+1199insCTCCTCTGCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCATTCCTCTG CCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACT CATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTG CCCGCTCACTCATTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933412	A A	ATGAGTGA others(653): Show ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGA ATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0177 a0002c0001t0004g0177	1	386	0.0026	660	c.198 others(675): Show c.198+798_198+799insCTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933492	A A	ATGAGTGA others(653): Show ATGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0186 a0002c0001t0024g0186	1	386	0.0026	660	c.198 others(675): Show c.198+718_198+719insCTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933981	C C	CGAGGAGA others(653): Show CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGAGGAGAAGAATGAGTGAGCGAGGAGAGGAGTGAGTGAGCGGGGAGAGG AATGAGTGAGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0141 a0001c0002t0141	a0001c0002t0141g0299 a0001c0002t0141g0299	1	386	0.0026	660	c.198 others(675): Show c.198+229_198+230insACTCACTCATTCCTCTCCCCGCTCACTCAC TCCTCTCCTCGCTCACTCATTCTTCTCCTCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DBNDD1_chr16_89999871_90024456	90003741	G G	GGGCCACC others(653): Show GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCC GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCT CCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGTGGGACTTCTGTAAC TCCCTCCCCTGGCCCAGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTT TACGTGCACGTGGGGTGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCTACCTTTACGTGCACGTGGGGTGGGACTTCTGTAACTCCCT CCCCTGGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0157 a0001c0001t0005g0157	1	412	0.0024	660	c.25 others(671): Show c.2593_*2594insTGGGCCAGGGGAGGGAGTTACAGAAGTCCCACCC CACGTGCACGTAAAGGTAGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCTGGGCCAGGGGAGGGAGTT ACAGAAGTCCCACCCCACGTGCACGTAAAGGTAGCCCGGGCCAGGGGAGG GAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGG CCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCTGGGCCAGGGGAGGGAGTTACAGAAGTCCCACCCCACGT GCACGTAAAGGTAGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCC CACGTGCACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1129		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003876	C C	CGGGACTT others(653): Show CGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCAGCCTGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCT GGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCT CCCCTGCCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCCGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCTACCTTTACAT GCACGTGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0184 a0001c0001t0001g0030 a0001c0001t0001g0184	2	412	0.0049	660	c.24 others(671): Show c.2458_*2459insACCGCACGTGCATGTAAAGGTAGCCCGGGCCGGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCTGGG CCAGGGGAGGGAGTTACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCAGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGT GCACGTAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAGTCCCACCC CACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCAAAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGGCTGGGGGAGGGAGTC ACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCTGGGCCAGGGGAGG GAGTTACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGGCCAGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGG CCAGGGGAGGGAGTCACAGAAGTCCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		994		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003900	C C	CGGCCCGG others(653): Show CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTC TGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	412	0.0024	660	c.24 others(671): Show c.2434_*2435insAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTG CACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCC ACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCC GCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCATAGAA GTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACGTAAAGGTAGCCCGGGCCAGGGGAGGG AGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGGG GAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGC CAGGGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTGGCC CGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGG TGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGT AAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCACCCCACGTG CACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCC ACGTGCACGTAAAGGTGGCCCGGGCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		970		chr16	TogoVar
DCDC2C_chr2_3698575_3853008	3725478	A A	AGAGGAAG others(653): Show AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGG AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGATGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCTGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0013 a0001c0002t0005g0013	1	324	0.0031	660	c.340 others(677): Show c.340-1482_340-1481insGGAGGGAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCTGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC GGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGG AGATGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251056	T T	TCCCCCAC others(653): Show TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCCCACACC CCCACACACCCCCCACACCACACATCCCCCACACCCCCACACATCCCCCA CACCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCCA CACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCCATCCCCCA CATCCCCCACACACCCCCACATCCCCCCACACCCCCCACACCCCCCACAC CACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACACCCCCACAC ACCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACACCA CACATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCACAAATCC CCCACATCCCCCACACCCACACACACCCCCCACACCACAAATCCCCCACA CCCCCCACATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCA CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACA CCCCCACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	116	0.0086	660	c.207 others(679): Show c.2073+1382_2073+1383insCCCCACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCC CACACATCCCCCACACCCCCACATCCCCCACACCCCCATCCCCCACATCC CCCACACCCCCCACACCCCCCACATCCCCACACCCCCCACATCCCCCACA CCCCCATCCCCCACATCCCCCACACACCCCCACATCCCCCCACACCCCCC ACACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCC CACACCCCCACACACCCCCCACATCCCCCACACCTCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACATCCCCCACACCCCCCACACCCCCC ACACCACAAATCCCCCACATCCCCCACACCCACACACACCCCCCACACCA CAAATCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCACA CCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCACCCACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCCCACACCCCCACACACCCCCCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132149181	A A	ATACCACA others(653): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGC TCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0005 a0002c0032t0005	a0002c0032t0005g0092 a0002c0032t0005g0092	1	334	0.0030	660	c.-48 others(671): Show c.-4886_-4885insGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAG GGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGT GGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTG AGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAG GCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCG GCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTC ACCGAGGGGATTAGGGGTGTGGTATGAGCGAGGCGGCCGCACTCACCGAG GGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATT AGGGGTGTGGTATGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTA GGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTATGAGCGAGGCGG CCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCCGCAC TCACCGAGGGGATTAGGGGTGTGGTA	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4863		chr12	TogoVar
DIRAS1_chr19_2709567_2726372	2713317	C C	CCACCTCC others(653): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCT CCTCCACCCTTCATCCCATCCGTCACTGTCTACACCGATCACCTCCTCCA CCCTTCACCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCA TCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATACCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATTCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCCTCCCATCCCTCACTTCCTCCACC CATCACCTCCTCCATCCTTCATCCCATCCCTCACTTCCTACACCCATCGC CTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCATCACCTCCTC CACCCTTCACCCCATACCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCGTCACTG TCTACACCGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	660	c.38 others(671): Show c.3892_*3893insATCGGTGTAGACAGTGACGGATGGGATGAAGGGT GGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGTATGGGGTGAAGGGTGGAGGAGGTGATGGGTGTAGGAAG TGAGGTATGGGGTGAAGGGTGGAGGAGGCGATGGGTGTAGGAAGTGAGGG ATGGGATGAAGGATGGAGGAGGTGATGGGTGGAGGAAGTGAGGGATGGGA GGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGGTGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAG GAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTG ATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGT GTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGATCGGTGTAGAC AGTGACGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAG GGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1249		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(653): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCA TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCA CTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	660	c.36 others(671): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTG GAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAG GTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(653): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTC CTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCA TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	660	c.36 others(671): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTG GAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAG GTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713713	T T	TCACCTCC others(653): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCAC CTCCTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACCTCCTC CACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCC TCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	660	c.34 others(671): Show c.3496_*3497insGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGAT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGGATGGTGTGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGG ATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAG GAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTG GTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGT GTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGA AGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAG GGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		853		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522727	G G	GACCCAGC others(653): Show GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGA GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC GAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCC AGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAAAGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGG ACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0012 a0004c0028t0012	a0004c0028t0012g0047 a0004c0028t0012g0047	1	358	0.0028	660	c.236 others(679): Show c.2363-1215_2363-1214insACCCAGCCAGAGCCCAGCCAGGGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAAAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DOC2B_chr17_137789_186650	141114	T T	TGAGGGGA others(653): Show TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGAC CTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAG GGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTG AGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGG TGAGGGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACC TGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGG AACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGA GGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0267 a0001c0002t0016g0267	1	339	0.0030	660	c.63 others(671): Show c.6326_*6327insCCCATGTCCCCTCACCAGGTCCCCTCACCAGGTC CCCTCACCAAGGCTCCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACC AAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCCC CCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCC TCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCC TCCTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGG TCCTCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACC AGGTCCTCCTCACCAAGGTCCCCCCCATGTCCCCTCACCAGGTCCCCTCA CCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCC ACCCATGTTCCCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCC CCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCTCCTCACCATG CTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGGTCCTCCTCACC AGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTC ACCAAGGTCCCACCCATGTTCCCCTC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1674		chr17	TogoVar
EXD3_chr9_137301896_137428162	137328271	A A	ACCTACAT others(653): Show ACCTACATGATGCGTAAAAACAACGAACAAACACCCACGTGATGAGTAAA AACAACTAATATACACCCATATCATGAGTAAAAACAACTAATATACTCCC ATATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAAACA ACGAATAAACACCCACATGATGAGTAAAAACAATGAATATACACCCACAT GAGTAAAAACAACTAATATACTCCCATATGACGAGTAAAAACAACGAATA TACACCCACATGATGAGTAAAAACAACAAACACCCACATGATGAGTAAAA ACAACTAATATACTCCCACATGATGAGTAAAAACAACTAATATACTCCCA TATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAACAAC TAATATACTCCCATATAATGAGTAAAACAACTAATATACTCCCATATGAT GAGTAAAAACAATGAATATACACCCACATGATGAGTAAAAACAACTAATA TACTCCCATATGATGAGTAAAAACAACAAGTACACACCCACATGATGAGT AAAAACAACTAATATACTCCCATATGATGAGTAAAAACAAGTACACACCC ACATGATGAGTAAAAACAACTAATATACACCAATATGATGAGTAAAAACA ACTAATATACT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	82	0.0122	660	c.199 others(679): Show c.1999-4129_1999-4128insAGTATATTAGTTGTTTTTACTCATCA TATTGGTGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTT TTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGT GTGTACTTGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTA CTCATCATGTGGGTGTATATTCATTGTTTTTACTCATCATATGGGAGTAT ATTAGTTGTTTTACTCATTATATGGGAGTATATTAGTTGTTTTACTCATC ATGTGGGTGTATATTAGTTGTTTTTACTCATCATATGGGAGTATATTAGT TGTTTTTACTCATCATGTGGGAGTATATTAGTTGTTTTTACTCATCATGT GGGTGTTTGTTGTTTTTACTCATCATGTGGGTGTATATTCGTTGTTTTTA CTCGTCATATGGGAGTATATTAGTTGTTTTTACTCATGTGGGTGTATATT CATTGTTTTTACTCATCATGTGGGTGTTTATTCGTTGTTTTTACTCATCA TGTGGGTGTATATTAGTTGTTTTTACTCATCATATGGGAGTATATTAGTT GTTTTTACTCATGATATGGGTGTATATTAGTTGTTTTTACTCATCACGTG GGTGTTTGTTCGTTGTTTTTACGCATCATGTAGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(653): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAA TATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	323	0.0031	660	c.-21 others(671): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar

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Search Results (Total: 10000 hits)