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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SMYD3_chr1_245744347_246512279	245975109	T T	TAGGGAAA others(497): Show TAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCT AGCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0114 a0002c0003t0002g0114	1	150	0.0067	504	c.532 others(523): Show c.532-45173_532-45172insGGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCTAGA GACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGAT GGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGG CTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCT TTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTT CCCTGGGCTAGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190091	A A	AATGATAT others(497): Show AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATAT AACAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02523.hp1 HG02135.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0110 a0001c0001t0003 a0001c0001t0110	a0001c0001t0003g0291 a0001c0001t0110g0324 a0001c0001t0003g0291 a0001c0001t0110g0324	2	356	0.0056	504	c.-11 others(525): Show c.-112+29167_-112+29168insTAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATATAACATATGATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA3_chr2_230991121_231013040	231005022	T T	TCACCATC others(497): Show TCACCATCATCACCTCTACACTAATCCTTCTACATCACCACTCACCATCA CTCACCATCATCCTCATCACCATCACCATCCTCATCACCATCCACACCCA CACCACCATCACCACATCACCATCATCACCATCACCACCACCACCATCAC CACCATCACCATCATCACCACACCATCACCACCATCCACCACCATCACCA CCATCACCACCACCACCATCACCACCATCACCATCACCACACCACCATCA CCACCATCACCACCACCACCACCATCACCACCATCACACCACACACCACC ACCACCACCATCACACCACCACCACCACCACCACCATCACCACCACCACC ACCACCATCACCACCATCATCACCACCATCACCACCACCATCATCACCAC CACCACCATCCACCATCACCACCACCACCACCACACCACCACCATCACCA TCATCACCACCACCACCATCACCACCATCATCACCACCACCACCATCACC ACCAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0149 a0002c0002t0003g0149	1	436	0.0023	504	c.11 others(521): Show c.118+917_*118+918insTCTACACTAATCCTTCTACATCACCACT CACCATCACTCACCATCATCCTCATCACCATCACCATCCTCATCACCATC CACACCCACACCACCATCACCACATCACCATCATCACCATCACCACCACC ACCATCACCACCATCACCATCATCACCACACCATCACCACCATCCACCAC CATCACCACCATCACCACCACCACCATCACCACCATCACCATCACCACAC CACCATCACCACCATCACCACCACCACCACCATCACCACCATCACACCAC ACACCACCACCACCACCATCACACCACCACCACCACCACCACCATCACCA CCACCACCACCACCATCACCACCATCATCACCACCATCACCACCACCATC ATCACCACCACCACCATCCACCATCACCACCACCACCACCACACCACCAC CATCACCATCATCACCACCACCACCATCACCACCATCATCACCACCACCA CCATCACCACCACCACCATCATCACC		SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(497): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGGAGGGGGGAAGCGGGAACGGGGGGAGGGGAGATGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAAGGGGGA GGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGG GAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGGAGGGGGAGGGGGAAG CGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	251	0.0040	504	c.34 others(513): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCCTCCCCATCTC CCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCCATCTCCCCTCCCCCGTTCCGCTTCCCCCTCCCCCTTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCCGTTCCCGCTTCCCC CCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTC CCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCACCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCCTC CCCCTTCCCCCTTCCCCT		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					130		chr21	TogoVar
SPOCK3_chr4_166728384_167239494	167109041	C C	CTTATATA others(497): Show CTTATATAAAAATATATATAAATATATACTTATATAAAAATATATATAAA TATATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATA TATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	144	0.0069	504	c.190 others(523): Show c.190-46505_190-46504insATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATAT TTATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTTAT ATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATAT ATTTATATATATTTTTATATAAGTATATATTTATATATATTTTTATATAA GTATATATTTATATATATTTTTATATAA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	46772220	T T	TACACATA others(497): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	112	0.0089	504	c.62+ others(519): Show c.62+9373_62+9374insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACATACACATATATATGTATA CACACATACACATATATATGTATACACACATACACATATATATGTATACA CACACACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBXAS1_chr7_139824264_140025293	139950681	C C	CCCCCTCG others(497): Show CCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0210 a0006c0006t0001g0210	1	270	0.0037	504	c.451 others(521): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GATCCCCTCGCCCTCCATCTACGGGA		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950763	C C	CTCCATCT others(497): Show CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCTTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	270	0.0037	504	c.451 others(521): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1628085	G G	GGGGGTGG others(497): Show GGGGGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGG AAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0155 a0002c0001t0015g0155	1	352	0.0028	504	c.299 others(519): Show c.299-660_299-659insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCT GTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCCCACCCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TERT_chr5_1248167_1300068	1291620	G G	GCACGTGA others(497): Show GCACGTGACAGAGAAACCCGGGGGCCACGCCTCACTCACCCTGCACGGGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACA CCCGGGGATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGG CCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGACGGCGCCT CACTCACCCTACACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACC CTACACGTGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGG GACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGA CACCCGGGGATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGG GGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGC CTCACTCACCCTGCACGTGACAGGGACACCCGGGGATGGCGCCTCACTCA CCCTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG03471.hp2 others(2): Show HG02572.hp1 HG02622.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0002g0120 a0001c0001t0002g0121 others(2): Show a0001c0001t0001g0122 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0194 a0001c0001t0003g0123	5	392	0.0128	504	c.157 others(523): Show c.1573+1692_1573+1693insTAGGGTGAGTGAGGCGCCATCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT GTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCACGTGCAGGGTGA GTGAGGCGCGGCCCCCGGGTGTCCCTGTCCCGTGCAGCGTGATTGAGGTG TGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCATCCCC GGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCC CTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACG TGTAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCCCGTGCAGGGT GAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGG CGTGGCCCCCGGGTTTCTCTGTCACGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(497): Show CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGC CTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTACCCCA CCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTA CCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCT GTACCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAG CCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	370	0.0027	504	c.-13 others(515): Show c.-1313_-1312insAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGG GGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGTACAGA GGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG TACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGG GGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1257		chr19	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTTA others(497): Show CCCCCTTAGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0065 a0001c0001t0006g0065	1	370	0.0027	504	c.-13 others(515): Show c.-1313_-1312insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC ACAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGC TGGGTGGGGGCACTAAGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1257		chr19	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(497): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0004 a0005c0004t0003g0004	2	444	0.0045	504	c.227 others(523): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115633	C C	CACAGGGG others(497): Show CACAGGGGCGAAGGGAGTGGGTACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGG GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0019 a0004c0006t0002g0019	1	444	0.0023	504	c.227 others(523): Show c.2277+1635_2277+1636insGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTACCCACTCCCTTCGCCCCTGT		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747431	G G	GCTGGGGT others(497): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0027 a0001c0001t0062g0027	1	314	0.0032	504	c.189 others(519): Show c.189-856_189-855insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747993	T T	TGGGAGGC others(497): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0043 a0002c0002t0045g0043	1	314	0.0032	504	c.189 others(519): Show c.189-326_189-325insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGC		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287549	G G	GCCTCCCC others(497): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	348	0.0029	504	c.519 others(521): Show c.519+1074_519+1075insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287577	C C	CCCTCCCC others(497): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0195 a0001c0002t0003g0195	1	348	0.0029	504	c.519 others(521): Show c.519+1046_519+1047insCTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TRIM28_chr19_58539064_58555715	58541495	C C	CCACACAG others(497): Show CCACACAGACCCTACTTCCCTCCTCAGACAGGATGCTCCCCCCACACACC CTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTC CTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCATACAGGA TTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCA CACATCCTGCTTCCCTCCTCAGACAGGATTCTCCCTACACAGAACCTGCT TCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAG ACATGATTCTTCTCACACACACTCTGCTTCCCTCAGACAGGATTCTCCCC ACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCTCCACACACACCCT GCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTCCCCACAGAGACCCTGCTTCCCTCCTCAGACAGGATT CTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	402	0.0025	504	c.-32 others(515): Show c.-3263_-3262insCACACAGACCCTACTTCCCTCCTCAGACAGGATG CTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACA CACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTC CCTCCTCATACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGAC AGGATTCTCCCCCCACACATCCTGCTTCCCTCCTCAGACAGGATTCTCCC TACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCC TGCTTCCCTCCTCAGACATGATTCTTCTCACACACACTCTGCTTCCCTCA GACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCT CTCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAGAGACCCTGCTTCCC TCCTCAGACAGGATTCTCCT		TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding					2568		chr19	TogoVar
UBR4_chr1_19069510_19215266	19175319	C C	CAGAAAGA others(497): Show CAGAAAGAAGTGGAAGAATTTATTATAACTATTCAAGAATATTTTACAGA ATGCAATGACAGGAATAATCCTTGTCTCAAAGAGATTTAGAATTTATAAA TGGAAAAACATCAAAAAGTTAGCAGTATTCTGACTCCATCTCTCATTTGT ACTTCTTTCGGTCACAAAAAATTTGTCCAGCCAGAGCAAAAGGAACTAAT CAGCCTAATTATGTCTTGGGTGTTGGGTAACTCTCTGTTCATACAGGCTA GGAAATCTGTTCATACCTCCAGTGGAGTTCTCTCCTCAAACTGTGATATA AGAAGATACAGATGGCCACACTCATTTACATAAGGCAATAAACAGATATG CAAATTCAACTCTAATATATGGTGCTTAAGTACAAAACAAGAAGAAACAC AGGAACTGTCAGCATATATAACTTGTTTCTCCATTGCTTTGAATATTCAA ATAATTCACAATTTTTAAAGCTTTCAATTTCAATCTGAACATGTAGATCA ATGGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	326	0.0031	504	c.277 others(521): Show c.2774-287_2774-286insACCATTGATCTACATGTTCAGATTGAAA TTGAAAGCTTTAAAAATTGTGAATTATTTGAATATTCAAAGCAATGGAGA AACAAGTTATATATGCTGACAGTTCCTGTGTTTCTTCTTGTTTTGTACTT AAGCACCATATATTAGAGTTGAATTTGCATATCTGTTTATTGCCTTATGT AAATGAGTGTGGCCATCTGTATCTTCTTATATCACAGTTTGAGGAGAGAA CTCCACTGGAGGTATGAACAGATTTCCTAGCCTGTATGAACAGAGAGTTA CCCAACACCCAAGACATAATTAGGCTGATTAGTTCCTTTTGCTCTGGCTG GACAAATTTTTTGTGACCGAAAGAAGTACAAATGAGAGATGGAGTCAGAA TACTGCTAACTTTTTGATGTTTTTCCATTTATAAATTCTAAATCTCTTTG AGACAAGGATTATTCCTGTCATTGCATTCTGTAAAATATTCTTGAATAGT TATAATAAATTCTTCCACTTCTTTCT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	20/105						chr1	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(497): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATATTTATGTAATATA TAATATTTATATATATTTATGTAATATATAATATTTATATATTATATTTA TGTAATATATAATATATATTTATATATTATATTTATGTAATATATAATAT ATATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0100	1	204	0.0049	504	c.213 others(523): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATATATAAATATTATATATTACATAAATATATATA AATATTATATATTACATAAATATATATAAATATTATATATTACATAAATA TATATAAATATTATATATTACATAAATATAATATATAAATATTATATATT ACATAAATATAATATATAAATATTATATATTACATAAATATAATATATAA ATATTATATATTACATAAATATAATATATAAATATTATATATTACATAAA TATAATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAATATATATTATATATTACATAAATATAATATATAATATATATTATA TATTACATAAATATAATATATAAATATA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15						chr4	TogoVar
UNC5D_chr8_35230475_35801540	35248360	A A	AGATATAT others(497): Show AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATA TAATATATAAATATATGTTATATAAGATATATAATATATAAATATATGTT ATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATATA TAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAG ATATATAATATATAAATATATGTTATATAAGATATATAATATATAAATAT ATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATATA ATATATAAATATATGTTATATAAGATATATAATATATAAATATATGTTAT ATAAGATATATAATATATAAATATATGTTATATAAGAAATAGATATAATA TATAAATATATGTTATATAAGAAATAGATATAATATATAAATATATGTTA TATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03239.hp2 HG01928.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0001t0001 a0001c0002t0015	a0001c0001t0001g0039 a0001c0002t0015g0043 a0001c0001t0001g0039 a0001c0002t0015g0043	2	64	0.0313	504	c.103 others(523): Show c.103+12475_103+12476insTATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATA AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATA TAATATATAAATATATGTTATATAAGATATATAATATATAAATATATGTT ATATAAGAAATAGATATAATATATAAATATATGTTATATAAGAAATAGAT ATAATATATAAATATATGTTATATATGA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(497): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGGG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAG GAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	167	0.0060	504	c.53 others(515): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCAC CCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCT CCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCC TCCCTCCCTCCTCTCCTCCC		USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding					2224		chr13	TogoVar
VCX2_chrX_8164944_8176267	8169829	T T	TCCCTCCC others(497): Show TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03225.hp1 HG03486.hp1 HG02818.hp1 HG03225.hp1 HG03486.hp1	a0002 a0021 a0002 a0021	a0002c0001 a0021c0019 a0002c0001 a0021c0019	a0002c0001t0001 a0021c0019t0001 a0002c0001t0001 a0021c0019t0001	a0002c0001t0001g0003 a0021c0019t0001g0031 a0002c0001t0001g0003 a0021c0019t0001g0031	3	115	0.0261	504	c.20 others(513): Show c.202_*203insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					114		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(497): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0164 a0002c0002t0002g0164	1	246	0.0041	504	c.53- others(517): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(497): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01358.hp1 HG01981.hp2 others(4): Show HG00597.hp1 HG01358.hp1 HG01981.hp2 HG02451.hp1 HG02486.hp2 HG02698.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0002g0160 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0191	7	246	0.0285	504	c.53- others(517): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(497): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	246	0.0041	504	c.53- others(517): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTC CTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(497): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCTCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	246	0.0041	504	c.53- others(517): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCTCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(497): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	246	0.0041	504	c.53- others(517): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCC TCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(497): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCC CCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	246	0.0041	504	c.53- others(517): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	AATATATA others(497): Show AATATATATATATTATATATATATATATAATATATATAATATATATATAA TATATATATATTATATATATTATATATATTATATATATTATATATATATT ATATATATATTATATATATAATATATATAATATATATATAATATATATTA TATATATAATATATATATATTATATATATAATATATATATTTAATATATA TATTATATATATAATATATATTATATATATAATATATATATTTAATATAT ATTATATATATAATATATATATTATATATATAATATATATTTAATATATA TATTATATATATAATATATATATTATATATATATAATATATATATTTAAT ATATATATTATATATATAATATATATATTTAATATATAATATATATATAA TATATATATTATATATATAATATATATATAATATATATATTATATATATA ATATATATATAATATATATATTATATATATAATATATATATTATATATAT ATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0035 a0003c0004t0001g0035	1	330	0.0030	504	c.38 others(515): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT ATTATATATATAATATATATATTATATATATATTATATATTAAATATATA TATTATATATATAATATATATATTAAATATATATATTATATATATATAAT ATATATATTATATATATAATATATATATTAAATATATATTATATATATAA TATATATATTATATATATAATATATATTAAATATATATATTATATATATA ATATATATTATATATATAATATATATATTAAATATATATATTATATATAT AATATATATATATTATATATATAATATATATTATATATATATTATATATA TTATATATATAATATATATATAATATATATATAATATATATAATATATAT AATATATATAATATATATATATTATATATATATTATATATATTATATATA TATATATAATATATATATAT		WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding					3733		chr19	TogoVar
XG_chrX_2747040_2821500	2773486	G G	GGAAGGAA others(497): Show GGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAA GGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAA GGAGA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	322	0.0031	504	c.104 others(521): Show c.104-1100_104-1099insGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAGGGAAGGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA GGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGA		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(497): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATCATATATATCATACATATCACATATATGATATATATCAT ATATATCACATATATCATATATATCATATATATCACATATATCATATATA TCACATATATGATATATATATCATATATATCACATATATGATATATATCA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	350	0.0029	504	c.-36 others(515): Show c.-3663_-3662insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATCATATATATCATACATATCACATA TATGATATATATCATATATATCACATATATCATATATATCATATATATCA CATATATCATATATATCACATATATGATATATATATCATATATATCACAT ATATGATATATATCATATAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3559		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(497): Show GATATATAGCATATATATCATATGTGATATATATCATATGTGATATATAT CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	504	c.-35 others(515): Show c.-3503_-3502insATATATAGCATATATATCATATGTGATATATATC ATATGTGATATATATCATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATC		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3399		chr10	TogoVar
ZNF585A_chr19_37140540_37177695	37167589	T T	TTTTATTT others(497): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0017 a0004c0005t0017	a0004c0005t0017g0060 a0004c0005t0017g0060	1	344	0.0029	504	c.72+ others(519): Show c.72+2249_72+2250insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAA		ZNF585A	ENSG00000196967.11	transcript	ENST00000292841.10	protein_coding	2/4						chr19	TogoVar
ZNF676_chr19_22174089_22201951	22180935	C C	CCTTTGCC others(497): Show CCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTAT CTTATGTTTAGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTCTT CACATTTATAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGTAAGG CTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTCCAGTGTGAACTCTCTTATGTTCCATAAGATTTGAGGACGAGTTGA AAGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATT ATCTTATGTTTAGTAAGGATTGAGGATCGATTAAAAGCTTTCCCACATTC TTCACATTTATAGGGTTTCTCTCCAGCATGAATTCTCTTGTGTTCAGTAA GGCTTGAGGACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGT TTCTCTCCAGTGTGAACTCTCTTATGTTCCATAAGATTTGAGGACGAGTT GAAAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19005.hp1 NA19005.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0002 a0017c0026t0002	a0017c0026t0002g0243 a0017c0026t0002g0243	1	439	0.0023	504	c.781 others(511): Show c.781_782insCTTTCAACTCGTCCTCAAATCTTATGGAACATAAGAGA GTTCACACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTT CAGCTGGTCCTCAAGCCTTACTGAACACAAGAGAATTCATGCTGGAGAGA AACCCTATAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAATC CTTACTAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGA AGAATGTGGCAAAGCTTTCAACTCGTCCTCAAATCTTATGGAACATAAGA GAGTTCACACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCC TTCAGCTGGTCCTCAAGCCTTACTGAACACAAGAGAATTCATGCTGGAGA GAAACCCTATAAATGTGAAGAATGTGGGAAAGCTTTTAATCGATCCTCAA TCCTTACTAAACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGT GAAGAATGTGGCAAAG	p.Lys others(517): Show p.Lys260_Gly261insAlaPheAsnSerSerSerAsnLeuMetGluHi sLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheSerTrpSerSerSerLeuThrGluHisLysArgIleHisAla GlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArgSe rSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTyrL ysCysGluGluCysGlyLysAlaPheAsnSerSerSerAsnLeuMetGlu HisLysArgValHisThrGlyGluLysProTyrLysCysGluGluCysGl yLysAlaPheSerTrpSerSerSerLeuThrGluHisLysArgIleHisA laGlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheAsnArg SerSerIleLeuThrLysHisLysIleIleHisThrGlyGluLysProTy rLysCysGluGluCysGlyLys	ZNF676	ENSG00000196109.9	transcript	ENST00000397121.3	protein_coding	3/3	1099/2946	781/1767	261/588			chr19	TogoVar
ABCC2_chr10_99777640_99857594	99838862	C C	CGGCTGGC others(498): Show CGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGTGCGGCCGGGCA GAGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	336	0.0030	505	c.361 others(524): Show c.3614+2584_3614+2585insGGGGGGCTGACCCCCCTACCTCCCTC CCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGT GCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGC		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172057	A A	ATAAATGA others(498): Show ATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGA ATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGTGG GATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGGATGGATA AATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGAGAGGGTGGGATGGATAAATGAG GGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG CTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAATGAGTGGGTGG GATGGC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18980.hp1 NA18995.hp1 NA18951.hp1 NA18980.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0108 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0108	3	357	0.0084	505	c.278 others(524): Show c.2787+1226_2787+1227insGCCATCCCACCCACTCATTTATCCAT CCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTA GCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCC TCTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTATG CATCCCACCCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACTCACTCAT TTATGCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCAT CCCACTCACTCATTTATGCATCCCACCCATTCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTA		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172057	A A	ATAAATGA others(498): Show ATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGA ATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGTGG GATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGGATGGATA AATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG GGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG CTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAATGAGTGGGTGG GATGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	357	0.0028	505	c.278 others(524): Show c.2787+1226_2787+1227insGCCATCCCACCCACTCATTTATCCAT CCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTA GCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTATG CATCCCACCCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACTCACTCAT TTATGCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCAT CCCACTCACTCATTTATGCATCCCACCCATTCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTA		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172057	A A	ATAAATGA others(498): Show ATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGA ATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGTGG GATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGGATGGATA AATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG GGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG CTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAATGAGTGGGTGG GATGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02040.hp1 HG02257.hp2 others(4): Show HG01175.hp2 HG02040.hp1 HG02257.hp2 HG03225.hp1 HG03579.hp1 HG03579.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0072 others(1): Show a0001c0001 a0001c0004 a0001c0072 a0004c0010	a0001c0001t0001 a0001c0004t0001 a0001c0072t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0072t0001 a0004c0010t0001	a0001c0001t0001g0064 a0001c0001t0001g0188 a0001c0001t0001g0190 others(4): Show a0001c0001t0001g0064 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0341 a0001c0004t0001g0263 a0001c0072t0001g0356 a0004c0010t0001g0075	7	357	0.0196	505	c.278 others(524): Show c.2787+1226_2787+1227insGCCATCCCACCCACTCATTTATCCAT CCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTA GCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTATG CATCCCACCCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACTCACTCAT TTATGCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCAT CCCACTCACTCATTTATGCATCCCACCCATTCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTA		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ABR_chr17_998519_1184981	1163490	G G	GCCCCAGA others(498): Show GCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCC AGGTGGGACCCTGGCGAAGTGTCACACACAGCACTGAATCCAGACGCAGG GACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATC CAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAG GGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCAT CTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCA GGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCA TCTAGGTGGGACCCTGGCGAAGTGTCACACACAGCACTGAATCCAGACGC AGGGGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGC ATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACG CAGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	337	0.0030	505	c.61+ others(522): Show c.61+16176_61+16177insTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTCGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACT GGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTG TGTGACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCAC TGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGT GTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTCGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ADAMTS16_chr5_5135330_5325304	5305067	A A	ACACACAC others(498): Show ACACACACATCCCACACCACACACACACATCCACACCACACACACACACA TCCCACACCACACACACACAATCCCACACCACACACACAATCCCACACCA CACACACACACATCCCACACCACACACACACATCCCACACCACACACACA CACATCCCACACCACACACACACACCCCACACCACACACACACATCCACA CCACACACACACACATCCCACACCACACACAAATCCCACACCACACACAC AATCCCACACCACACACACACACATCCCACACCACACACAACCCACGCCA CACACACACATCCCACACCCATCCCACGCCACACACATCCACACCACACA CACATCCCACACCACACACACACACACATCCCATACCACACACACACATC CCACACCACACACATCCCACACCACACACACATCCCACACCACACACACA CATCCCACACCACACACACACACATCCCACACCACACATACACACACATC CCACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 HG02970.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0057 a0004c0009 a0001c0057 a0004c0009	a0001c0057t0001 a0004c0009t0009 a0001c0057t0001 a0004c0009t0009	a0001c0057t0001g0324 a0004c0009t0009g0134 a0001c0057t0001g0324 a0004c0009t0009g0134	2	332	0.0060	505	c.318 others(524): Show c.3186+1309_3186+1310insTCCCACACCACACACACACATCCACA CCACACACACACACATCCCACACCACACACACACAATCCCACACCACACA CACAATCCCACACCACACACACACACATCCCACACCACACACACACATCC CACACCACACACACACACATCCCACACCACACACACACACCCCACACCAC ACACACACATCCACACCACACACACACACATCCCACACCACACACAAATC CCACACCACACACACAATCCCACACCACACACACACACATCCCACACCAC ACACAACCCACGCCACACACACACATCCCACACCCATCCCACGCCACACA CATCCACACCACACACACATCCCACACCACACACACACACACATCCCATA CCACACACACACATCCCACACCACACACATCCCACACCACACACACATCC CACACCACACACACACATCCCACACCACACACACACACATCCCACACCAC ACATACACACACATCCCACACCACACACA		ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACAG others(498): Show CACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCGTGA GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0148 a0001c0004t0004g0148	1	368	0.0027	505	c.401 others(522): Show c.401+8833_401+8834insACCACAGACACCTCCCTCCTAATCCCAC CAGACAACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCA		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6						chr10	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(498): Show AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGG GAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGAGGGA GGGGATGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGG GAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGGGAGGGGAAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGA GGGGAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	276	0.0036	505	c.490 others(524): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGATGGGAGGGGGAG GGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGG ATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGAGGGG GGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGG GGAGGGGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGGGAGGGGAGGGGGAGGGGATGGGGA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSND_chr1_54993933_55022172	55003060	G G	GAGATGCT others(498): Show GAGATGCTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGAT AATAGTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGA CAATGGTGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGATGG TGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTG ATGATGATGGTGAGGATGGTGATGGTGAAGATGGTGATGATGAGATTGGT GATAGAATGGTGATGGTAATGACGATGTTGATGGTAATGAAGATGTCAAT GATGGTGATGTGATGATAATGATGGTAACGGTTATGATGATGGTGATGGT GATAATGATAATGGTGATGATGATGGTAATGGTCACGATGGTGATAGTGA TGATGATAGTGGTGATAATGATGGTGATGTTGATAATTTTGGTGGTGATA ATAGTTATGGTGATGATTGATGGTAATGAGGATGAGGATGATGACGATTA TTATTA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0211 a0001c0001t0211	a0001c0001t0211g0072 a0001c0001t0211g0072	1	448	0.0022	505	c.178 others(522): Show c.178-1962_178-1961insAGATGCTGATGATGAGGATGGTGATGGT GAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGA TGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATAGTGATG ATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATG GTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGAA GATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGTT GATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAAC GGTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTAA TGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGATG TTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATGA GGATGAGGATGATGACGATTATTATTA		BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3						chr1	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(498): Show GCAGGACTGGTCCATCCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACAGGCTGGTCATAAGCCCCGAGACCAGGACTGGTCATCAGCT ACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCA TCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGAC GGTCAATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCCGAGA CCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTG GTCATCAGCTACCCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCTACCCCGAGACCAGGAACTGGTCATCAGCTACCC CGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	218	0.0046	505	c.-19 others(516): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGAC CAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGGTCTCGGGGTAGC TGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG GGTAGCTGATGACCAGTCCTGGTCTCGGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATTGACCGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGC TTATGACCAGCCTGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGG TAGCTGGATGGACCAGTCCTG		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding					1742		chr10	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CGATCAGT others(498): Show CGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG01891.hp2 HG02970.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0019 a0002c0008t0019	a0002c0008t0019g0031 a0002c0008t0019g0221 a0002c0008t0019g0031 a0002c0008t0019g0221	2	338	0.0059	505	c.245 others(522): Show c.2452-117_2452-116insGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGCAGG others(498): Show TGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGG CAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGT GGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGG GAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGGCA GGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATG GGGGAGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGA GCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAG GGCGGAGGGAGATGGGGGAGCAGGGTGGAGAGAGATGGGGGAGCAGGGTG GAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGCAGGGCGGAGGGAGAT GGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGG GGGCAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0010 a0001c0022t0010	a0001c0022t0010g0004 a0001c0022t0010g0004	1	236	0.0042	505	c.237 others(522): Show c.237-1935_237-1934insGCAGGGCGGAGAGAGATGGGGGGGCAGG GCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGA GGGAGATGGGGGGCAGGGTGGAGAGAGATGGGGGGGCAGGGCGGAGAGAG ATGGCGGAGAGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGA CGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGA GAGATGGCGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGGCAG GGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCG GAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGTGGAGA GAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAGAT GGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGC AGGGCGGAGAGAGATGGGGGGGCAGGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCTCCC others(498): Show CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	256	0.0039	505	c.-45 others(526): Show c.-455+14562_-455+14563insTCCCCTCCCCCTCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCTTCCCCTCCTCTCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(498): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCTC CCTCTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	194	0.0052	505	c.75- others(522): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCCACTCCCTCCCTCTTC		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)