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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDON_chr11_125951821_126067866	126065111	G G	GTGATAGT others(557): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0015 a0003c0006t0015	a0003c0006t0015g0235 a0003c0006t0015g0235	1	334	0.0030	564	c.-25 others(575): Show c.-2595_-2594insATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2246		chr11	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(557): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACAC ACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGC TGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTC CCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACAC TGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0100 a0001c0100	a0001c0100t0001 a0001c0100t0001	a0001c0100t0001g0164 a0001c0100t0001g0164	1	372	0.0027	564	c.275 others(581): Show c.2759-909_2759-908insAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTC CGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGT TCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAG ACACACTGCTCTGTCCTTCCATTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(557): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTG TCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTG CTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGC TGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTC CCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACAC TGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0012 a0002c0035t0012	a0002c0035t0012g0328 a0002c0035t0012g0328	1	372	0.0027	564	c.275 others(581): Show c.2759-909_2759-908insAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTC CCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACT GCTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTT CCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTC CGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGT TCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAG ACACACTGCTCTGTCCTTCCATTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481668	A A	AGTTCTGT others(557): Show AGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCT GGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCC TCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC TCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCG TTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGAC ACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGT TGCTGGAGACACACT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp2 HG01258.hp2 HG00741.hp2 HG01256.hp2 HG01258.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0044 a0001c0002 a0003c0044	a0001c0002t0008 a0003c0044t0004 a0001c0002t0008 a0003c0044t0004	a0001c0002t0008g0012 a0003c0044t0004g0326 a0003c0044t0004g0327 a0001c0002t0008g0012 a0003c0044t0004g0326 a0003c0044t0004g0327	3	372	0.0081	564	c.275 others(581): Show c.2759-839_2759-838insCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACA CTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTG GAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGT TCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGA GACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCC GTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(557): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACCACACATGCATACACACCCACGCACCCCCAC ACTCATACACACATGCACACACACCACACATGCACACAATACACACCCAC ACTCCCACACTCATACACACATGCACACACACCACACATGCACACACGCA TACACACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACAC TCATACACACATGCACACACACCACACAGGCACACACACACCCACGCACC CCCACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATA CTCATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACAC ATGCACACACATACATGCACACACACATACACACCCACACCCCCACACTC ATACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACA CACCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01106.hp2 others(23): Show HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01433.hp2 HG01943.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp2 HG04115.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0008 others(9): Show a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0018 a0001c0019 a0001c0028 a0001c0032 a0001c0033 a0001c0036 a0001c0049 a0001c0064	a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 others(19): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0047 a0001c0006t0048 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0018t0008 a0001c0019t0022 a0001c0028t0038 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0049t0003 a0001c0064t0019	a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0266 others(23): Show a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0266 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0008t0001g0149 a0001c0008t0003g0017 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0018t0008g0182 a0001c0019t0022g0231 a0001c0028t0038g0138 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0036t0035g0045 a0001c0049t0003g0183 a0001c0064t0019g0010	26	272	0.0956	564	c.193 others(583): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACCACACATG CATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCAC ACATGCACACAATACACACCCACACTCCCACACTCATACACACATGCACA CACACCACACATGCACACACGCATACACACCCACACCCCCCCCACTCACA CGCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACAC AGGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGC ATACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACAC TCACATGTGCACAGACACCACACATGCACACACATACATGCACACACACA TACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGC GCGCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(557): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACCACACATGCATACACACCCACGCACCCCCAC ACTCATACACACATGCACACACACCACACATGCACACAATACACACCCAC ACTCCCACACTCATACACACATGCACACACACCACACATGCACACACGCA TACACACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACAC TCATACACACATGCACACACACCACACAGGCACACACACACCCACGCACC CCCACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATA CTCATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACAC ATGGACACACATACATGCACACACACATACACACCCACACCCCCACACTC ATACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACA CACCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp2 others(14): Show HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00741.hp2 HG01257.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02155.hp2 HG02273.hp1 HG02300.hp1 NA18950.hp1 NA18961.hp2 NA18967.hp1 NA19007.hp2 NA19068.hp2 NA19085.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0027 a0001c0057 a0002c0017 a0005c0062 a0010c0037	a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0002 a0001c0008t0001 a0001c0010t0003 a0001c0027t0001 a0001c0057t0002 a0002c0017t0003 a0005c0062t0011 a0010c0037t0001	a0001c0001t0005g0119 a0001c0002t0001g0144 a0001c0002t0002g0056 others(14): Show a0001c0001t0005g0119 a0001c0002t0001g0144 a0001c0002t0002g0056 a0001c0002t0002g0074 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0005g0060 a0001c0002t0005g0211 a0001c0003t0001g0123 a0001c0004t0002g0228 a0001c0008t0001g0114 a0001c0010t0003g0068 a0001c0027t0001g0130 a0001c0057t0002g0024 a0002c0017t0003g0223 a0005c0062t0011g0026 a0010c0037t0001g0057	17	272	0.0625	564	c.193 others(583): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACCACACATG CATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCAC ACATGCACACAATACACACCCACACTCCCACACTCATACACACATGCACA CACACCACACATGCACACACGCATACACACCCACACCCCCCCCACTCACA CGCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACAC AGGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGC ATACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACAC TCACATGTGCACAGACACCACACATGGACACACATACATGCACACACACA TACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGC GCGCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(557): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACCACACATGCATACACACCCACGCACCCCCAC ACTCATACACACATGCACACACACCACACATGCACACAATACACACCCAC ACTCCCACACTCATACACACATGCACACACACCACACATGCACACACGCA TACACACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACAC TCATACACACATGCACACACACCACACAGGCACACACACACCCACGCACC CCCACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATA CTCATACATGCCCACACACCCCCACACTCACATGTGCACAGACACCACAC ATGCACACACATACATGCACACACACATACACACCCACACCCCCACACTC ATACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACA CACCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	2	272	0.0074	564	c.193 others(583): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACCACACATG CATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCAC ACATGCACACAATACACACCCACACTCCCACACTCATACACACATGCACA CACACCACACATGCACACACGCATACACACCCACACCCCCCCCACTCACA CGCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACAC AGGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGC ATACACGCCCACACACCCCCATACTCATACATGCCCACACACCCCCACAC TCACATGTGCACAGACACCACACATGCACACACATACATGCACACACACA TACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGC GCGCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(557): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACCACACATGCATACACACCCACGCACCCCCAC ACTCATACACACATGCACACACACCACACATGCACACAATACACACCCAC ACTCCCACACTCATACACACATGCACACACACCACACATGCACACATGCA TACACACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACAC TCATACACACATGCACACACACCACACAGGCACACACACACCCACGCACC CCCACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATA CTCATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACAC ATGGACACACATACATGCACACACACATACACACCCACACCCCCACACTC ATACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACA CACCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0084 a0001c0056t0001g0084	1	272	0.0037	564	c.193 others(583): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACCACACATG CATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCAC ACATGCACACAATACACACCCACACTCCCACACTCATACACACATGCACA CACACCACACATGCACACATGCATACACACCCACACCCCCCCCACTCACA CGCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACAC AGGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGC ATACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACAC TCACATGTGCACAGACACCACACATGGACACACATACATGCACACACACA TACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGC GCGCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(557): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACCACACATGCATACACACCCACGCACCCCCAC ACTCATACACACATGCACACACACCACACATGCACACAATACACACCCAC ACTCCCACACTCCTACACACATGCACACACACCACACATGCACACACGCA TACACACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACAC TCATACACACATGCACACACACCACACAGGCACACACACACCCACGCACC CCCACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATA CTCATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACAC ATGCACACACATACATGCACACACACATACACACCCACACCCCCACACTC ATACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACA CACCCCACACTGATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0009 a0006c0034t0009	a0006c0034t0009g0193 a0006c0034t0009g0193	1	272	0.0037	564	c.193 others(583): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACCACACATG CATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCAC ACATGCACACAATACACACCCACACTCCCACACTCCTACACACATGCACA CACACCACACATGCACACACGCATACACACCCACACCCCCCCCACTCACA CGCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACAC AGGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGC ATACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACAC TCACATGTGCACAGACACCACACATGCACACACATACATGCACACACACA TACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGC GCGCACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTTATAT others(557): Show TTTTATATATATTTATATATATATTTATATATATTTATATTTATATATAT ATTTTTATATATTTATATATATTTTTATATATTTATATATTTATATATAT ATTTATATATATTTTTATATATATATTTATATATATTTATATATATTTAT ATATATATATATTTATATATATATTTTTATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATATATATATATATTTATATATATTTATATAT ATATATATATATATTTATATATATTTATATATATATATTTATATATATAT TTATATATATTTATATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	94	0.0106	564	c.-2+ others(581): Show c.-2+56296_-2+56297insTATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATATAAATATATATAAATATATATATAAA TATATATATATAAATATATATAAATATATATATATATATATATAAATATA TATAAATATATATATATATATATATATAAATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATATATAAA TATATATAAATATATATATAAATATATATATAAATATATATAAATATATA TAAATATATAAAAATATATATATAAATATATATATATATAAATATATATA AATATATATAAATATATATATAAAAATATATATAAATATATATATAAATA TATAAATATATAAAAATATATATAAATATATAAAAATATATATATAAATA TAAATATATATAAATATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCLK2_chr4_150073445_150262438	150251031	T T	TCCCCCAC others(557): Show TCCCCCACACCCCCCACATCCCCCACACCCCCCACACACCCCCCACACCA CACATCCCCCACACCCCCCACATCCCCCACACCCCCCACACCCCCCACAC CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACATCCCCC ACACCCCCATCCCCCCACACCCCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCACATCCCCCACACCCCCCACACACCCCCACACCACACA TCCCCCACACCCCCCACATCCCCCACACCCCCCACACCCCCCACACCCCC CACACACCCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACAC CCCCATCCCCCACACCCCCCACACACCCCCCACACCACACATCCCCCACA CCCCCCACATCCCCCACACCCCCCACACACCCCCCACACCACACATCCCC CACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCC ACACCCCCCACACCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	116	0.0086	564	c.207 others(583): Show c.2073+1350_2073+1351insCCACACCCCCCACATCCCCCACACCC CCCACACACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCAC ACCCCCCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCCC TCACACCCCCCACATCCCCCACACCCCCATCCCCCCACACCCCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCC ACACACCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCC CCCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCCCTCAC ACCCCCCACATCCCCCACACCCCCATCCCCCACACCCCCCACACACCCCC CACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACACAC CCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCAC ATCCCCCACACCCCCCACACACCCCCCACACCACACATCCCCCACACCCC CCACATCCCCCACACCCCCCACACCCCCCACACCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(557): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	367	0.0027	564	c.-42 others(575): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DGKD_chr2_233349494_233477098	233397135	A A	ACCAGAGG others(557): Show ACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCC AGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGA GGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGG GACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGAC CAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAG GGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGT GGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGC TGGGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGC CAGAGCGAGAGGACT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	336	0.0030	564	c.348 others(581): Show c.348+6689_348+6690insCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCT GCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCG GGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGG GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGG GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCC AGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCCAGA GCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCG AGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCCAGAGCGAGA GGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTC CAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2227787	G G	GGGAGGGA others(557): Show GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGAGG GAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGAGGGAGGGAGGG AGGGAGGAAGGGAGGGAGGAAGGGAGGAGGGAGGGAAGGGAGGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAAGGGAG GGAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGAGGGGGGAAGGG AGGGAGGGAGGGAGGGAGGAAGGGAGGGAGAGGGGAAGGGAGGGAGGGAA GGAGGGAGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGGAAGGGAGGGAGGGAGGGGAGGGAGGGGGGAAGGGAGG GAGGGAGGGGGGAAGGGGGAAGGCAGGGAGGGAAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0043 a0003c0003t0002g0043	1	50	0.0200	564	c.805 others(581): Show c.805-6559_805-6558insTCCCTTCCCCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCCTCCCTGCCTTCCCCCTTCCCCCCTCCCTCCCTCCCTTCCCCC CTCCCTCCCCTCCCTCCCTCCCTTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCCTCCCTCCCTCCCTTCCTCCCTCCTTCCCTCCCTCCC TTCCCCTCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCCCCCTC CCTCCCTCCCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCC TTCCCTCCCTCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCC CTCCCTCCCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(557): Show CCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCAC CCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	320	0.0031	564	c.39 others(575): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(557): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCAC CCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0109 a0001c0017t0001g0109	1	320	0.0031	564	c.39 others(575): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(557): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCAC CCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	564	c.39 others(575): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(557): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCAC CCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01192.hp1 HG01943.hp2 others(13): Show HG00558.hp2 HG01192.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02523.hp2 HG02735.hp2 NA18943.hp1 NA18944.hp1 NA18966.hp1 NA18973.hp1 NA18995.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0018 a0001c0001 a0002c0002 a0012c0018	a0001c0001t0001 a0002c0002t0001 a0012c0018t0001 a0001c0001t0001 a0002c0002t0001 a0012c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0151 a0002c0002t0001g0019 a0002c0002t0001g0187 a0012c0018t0001g0097	16	320	0.0500	564	c.39 others(575): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(557): Show CCACCCGCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCTCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCAC CCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0241 a0003c0003t0001g0241	1	320	0.0031	564	c.39 others(575): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	320	0.0031	564	c.39 others(575): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01123.hp1 HG00099.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0055 a0001c0001t0001g0078	2	320	0.0063	564	c.39 others(575): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	320	0.0031	564	c.39 others(575): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCACACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG01069.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0189 a0002c0002t0001g0018 a0002c0002t0001g0189	2	320	0.0063	564	c.39 others(575): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGTGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02165.hp2 NA18946.hp1 others(3): Show HG00558.hp1 HG02165.hp2 NA18946.hp1 NA18993.hp2 NA19004.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0020 others(2): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0199 a0002c0002t0001g0267	6	320	0.0188	564	c.39 others(575): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCGCACCCCCACCCCCACCCCCACCCTCACCCTCAC CCGCACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	320	0.0031	564	c.39 others(575): Show c.3972_*3973insGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGG TGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCCCACCCCCACCCTCAC CCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	320	0.0031	564	c.39 others(575): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCCCAC CCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0033 a0033	a0033c0024 a0033c0024	a0033c0024t0001 a0033c0024t0001	a0033c0024t0001g0178 a0033c0024t0001g0178	1	320	0.0031	564	c.39 others(575): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(557): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	320	0.0031	564	c.39 others(575): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DOCK8_chr9_209865_470255	400247	C C	CCACCACC others(557): Show CCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCATC ACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCACCTCCACCACCTCCACCATCACCA TCAACTCCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCC TCCACCACCACCACCACCTCCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCAGCATCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0154 a0011c0154	a0011c0154t0001 a0011c0154t0001	a0011c0154t0001g0067 a0011c0154t0001g0067	1	256	0.0039	564	c.323 others(581): Show c.3234+993_3234+994insCCACCAGCATCTTCACCATCACCACCAC CTCCACCATCACCATCACCACCACCTCCACTATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCTCCACC ACCTCCACCATCACCATCAACTCCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACC ATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTC CACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCATCTTCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(557): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCACCACCACCACCTCCATCACCACCACCACCACCACCACC ACCACTTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCAC CACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCT TCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG01496.hp2 others(7): Show HG00609.hp1 HG01243.hp1 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02080.hp1 HG02148.hp1 NA18612.hp1 NA18943.hp2 NA19060.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0028 a0037	a0001c0002 a0001c0003 a0002c0008 others(3): Show a0001c0002 a0001c0003 a0002c0008 a0003c0001 a0028c0116 a0037c0029	a0001c0002t0001 a0001c0003t0001 a0002c0008t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0002c0008t0001 a0003c0001t0001 a0003c0001t0016 a0028c0116t0002 a0037c0029t0001	a0001c0002t0001g0090 a0001c0002t0001g0253 a0001c0003t0001g0044 others(7): Show a0001c0002t0001g0090 a0001c0002t0001g0253 a0001c0003t0001g0044 a0002c0008t0001g0112 a0002c0008t0001g0114 a0003c0001t0001g0135 a0003c0001t0001g0158 a0003c0001t0016g0157 a0028c0116t0002g0233 a0037c0029t0001g0047	10	256	0.0391	564	c.323 others(583): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCAT CACCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCACCACCACCACCTCCACCACCACCGTCACC ACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCAC CTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCG others(557): Show CACCACCGCCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCACCACCACCACCTCCATCACCACCACCACCACCACCACC ACCACTTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCAC CACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCT TCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0113 a0002c0008t0001g0113	1	256	0.0039	564	c.323 others(583): Show c.3234+1717_3234+1718insCCACCGCCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCAT CACCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCACCACCACCACCTCCACCACCACCGTCACC ACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCAC CTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATT others(557): Show ATATAATTATATATAATATATAATATATTATATATTATATATATTATATA AATATATAATATATTATATATAATTATATAATATATTATATATAATATAT AATTATATGTTATATATTATATATATTATATATTATATATATATTATATA TATAATATATATTATATATTAAATTATATATAATATATATTATATATATA ATTTATATATATAAAATATATTATATATTATATAAATATATATATTTTAT ATATATAAAATATATATTTTATAATATATAATATAGAAATATATATTATA TAATATATAATTATATATAATTATATATTATATAATATATATTTCTATAT TATATATTTATAATGTATAATATATAAATATATTATAAATATATATTATA TACTATATAATGCATTATAAATATATTATATTTATATATTATAAATATAT TACATATTTATATATTATATATATAATATATATATTATATATTATAAATA TATTTTATAAAATATAATATATATATTATATATTATATTTTATAAAATAT AATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG02965.hp1 HG01884.hp2 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0019 a0001c0002t0001 a0001c0005t0010 a0001c0001t0019 a0001c0002t0001 a0001c0005t0010	a0001c0001t0019g0009 a0001c0002t0001g0024 a0001c0005t0010g0008 a0001c0001t0019g0009 a0001c0002t0001g0024 a0001c0005t0010g0008	3	220	0.0136	564	c.551 others(583): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATATATTATATATATAATATATAAATATGTAATATATTTATA ATATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATA TTTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATA TATATTATATAATATATAATTATATATAATTATATATTATATAATATATA TTTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATAT ATATTTATATAATATATAATATATTTTATATATATAAATTATATATATAA TATATATTATATATAATTTAATATATAATATATATTATATATATAATATA TATATAATATATAATATATATAATATATAACATATAATTATATATTATAT ATAATATATTATATAATTATATATAATATATTATATATTTATATAATATA TATAATATATAATATATTATATATTATATATAATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63486886	A A	ACCTGCCC others(557): Show ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCCT CCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCG ACCCTTCTCCGCATCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCAC CTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCCTCAG GGAAGCTGCCCAACCTCCACCCCCACCCTCCTCCGCATCCTCAGGGAACC TGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCAC CCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCA CCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGAC CCTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTC TGCATCCTCAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0008 a0003c0012t0008	a0003c0012t0008g0137 a0003c0012t0008g0137	1	374	0.0027	564	c.14 others(575): Show c.1411_*1412insCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGC AGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCC CTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGG ATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGGTGGAGGTTGGGCAGCTTCCCTGAGGGATGCGGAGGAGG GTCGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGG TGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGA TGGGCAGGTTCCCTGAGATGCGGAGAAGGGTCGGGTGGAGGGTGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGGTGGGCAGGTTCCCT GAGGATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATG CAGGTGAGGTCAGGGTGGAGGATGGGCAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1127		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63487035	C C	CGACCCTC others(557): Show CGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCT CCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGC ATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTC AGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAG CTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCA CCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCA CCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTC TGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCC TCAGGGAACCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGG AACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGC CCACCCTCCACCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	374	0.0027	564	c.12 others(575): Show c.1262_*1263insCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGC GGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAG GGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAG GGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGC AGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCC CTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGA TGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTC GGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGG GCAGGTTCCCTGAGGATACAGAGGAGGGTC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		978		chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(557): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA AGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGA GGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	290	0.0035	564	c.757 others(581): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCC TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC CTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTC CCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCC TTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCC TTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCC CTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTC CTCCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTC CCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EHMT1_chr9_137614005_137841127	137716248	G G	GTGTCATG others(557): Show GTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAG GAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	170	0.0059	564	c.86- others(577): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(557): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCCGGGGGGGTCGGCCAGCCGCCCCGTCT GGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGG CAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGG AGGCAAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCC CCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19082.hp2 HG02647.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0279 a0001c0001t0001g0291	2	322	0.0062	564	c.976 others(579): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGACCCCCCCGGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EML1_chr14_99788413_99947060	99927945	G G	GTGGTGGT others(557): Show GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0142 a0002c0001t0003g0142	1	288	0.0035	564	c.190 others(583): Show c.1909+7077_1909+7078insTGGTGATGGTGGTGATGGTGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
F2RL1_chr5_76814030_76840315	76814642	A A	ACAACCTC others(557): Show ACAACCTCCGCCTCCCAGGTTCAAGTTATTCTCCTGCCTTAGCCTCCCAA GTAGCTGGGATTACAGGCATGCGCCAGCAAGCCCAGCTAATTTTGTATTT TTAGTAGAGACAGGGTTTTACCATGTTTGTCAAGCTGGCCTCTAACTGCT GACTTCAGGTGATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CTGGCAGCACTTCAGTATTTTAAGTAAGGAAATCATTTGATCTGCTGGAC ATTTAAACAGGTTTACAAATGACTGCTATGTTGAGAGAAGACCGTGTGGA GGGCTATGGACAAAGAGAAAGAAAAGTTACAAGGTTGTTGTAATAATCCA AGTAAAGATAATGGTAACTAGAACGGAGATGGTAAAAGATATATTTTCAT ATATGGTAAAAGATACATTGCTGATAGATCAGATGCAGAACATAGAGAAG TCAAGGATATCTCCACAATTTTTAAATTTTCATTTTATTTTATTTATTTA TTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGA GATCTCGGCTCACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG03516.hp2 HG02717.hp1 HG02717.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0010g0280 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0010g0280	3	420	0.0071	564	c.-45 others(575): Show c.-4541_-4540insCAACCTCCGCCTCCCAGGTTCAAGTTATTCTCCT GCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCAGCAAGCCCA GCTAATTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTTGTCAAGC TGGCCTCTAACTGCTGACTTCAGGTGATCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGTGCCTGGCAGCACTTCAGTATTTTAAGTAAGGAAATCA TTTGATCTGCTGGACATTTAAACAGGTTTACAAATGACTGCTATGTTGAG AGAAGACCGTGTGGAGGGCTATGGACAAAGAGAAAGAAAAGTTACAAGGT TGTTGTAATAATCCAAGTAAAGATAATGGTAACTAGAACGGAGATGGTAA AAGATATATTTTCATATATGGTAAAAGATACATTGCTGATAGATCAGATG CAGAACATAGAGAAGTCAAGGATATCTCCACAATTTTTAAATTTTCATTT TATTTTATTTATTTATTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCT GGAGTGCAATGGCGAGATCTCGGCTCACTG	F2RL1	ENSG00000164251.5	transcript	ENST00000296677.5	protein_coding		4387		chr5	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(557): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03704.hp1 HG04115.hp2 others(3): Show HG00423.hp2 HG03704.hp1 HG04115.hp2 NA18747.hp1 NA18747.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	6	346	0.0173	564	c.-76 others(581): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(557): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTAT CACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(61): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18954.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18999.hp2 NA19002.hp2 NA19010.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0194 a0001c0001t0003g0005 a0001c0001t0005g0004 a0001c0001t0005g0081 a0004c0007t0001g0044	64	346	0.1850	564	c.-76 others(581): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(557): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp2 NA18985.hp2 others(2): Show HG02451.hp1 HG02818.hp2 NA18985.hp2 NA19076.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0006g0210	5	346	0.0145	564	c.-76 others(581): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(557): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTAT CACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	346	0.0029	564	c.-76 others(581): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
GALR1_chr18_77244848_77282900	77252896	T T	TCACCACC others(557): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CATCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCA CCACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCATCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCAT CACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	366	0.0027	564	c.666 others(581): Show c.666+1696_666+1697insTCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCATCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCACC ATCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCACC others(557): Show CCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0033 a0001c0001t0043g0033	1	366	0.0027	564	c.666 others(581): Show c.666+1801_666+1802insTCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCATCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113826390	C C	CGCAGGCA others(557): Show CGCAGGCACCTTCTCTCCCCCGCCTCCCGGCGCCGGCCTTGCAGGCACCT TCTCTCCCCGGCCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTCTCT CCCCGGCCTCCTGGCACTGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCC CGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCCGCCTCCCGGCGCCGGCC TCGCAGGCACCTTCTCTCCCCAGCCTCCCAGCGCCGGCCTTGCAGGCACC TTCTCTCCCCGGCCTCCTGGCACTGGCCTCGCAGGCACCTTCTCTCCCCA GCCTCCCAGCGCCGGCCTTGCAGGCACCTTCTCTCCCCGGCCTCCCGGCG CCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCAGCCTCCCGGCGCCGGC CTTGCAGGCACCTTCTCTCCCCAGCCTCCCAGCGCCGGCCTCGCAGGCAC CTTCTCTCCCCGGCCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTCT CTCCCCGGCCTCCTGGCACTGGCCTCGCAGGCACCTTCTCTCCCCAGCCT CCCAGCGCCGGCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0110 a0001c0006t0001g0110	1	143	0.0070	564	c.147 others(581): Show c.1477+605_1477+606insAAGGCCGGCGCTGGGAGGCTGGGGAGAG AAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTGCCCGC GAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGC CGGCGCTGGGAGGCTGGGGAGAGAAGGTGCCTGCAAGGCCGGCGCCGGGA GGCTGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAGGCCG GGGAGAGAAGGTGCCTGCAAGGCCGGCGCTGGGAGGCTGGGGAGAGAAGG TGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTGCCTGCAAGG CCGGCGCTGGGAGGCTGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGG AGGCGGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAG AGAAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTGCCC GCGAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCAAG GCCGGCGCCGGGAGGCGGGGGAGAGAAGGTGCCTGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(557): Show TTATATTTATTTATAAATAAATATATATTTATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATAT ATATAAATATATATAAATATATATTTATAAATAAATATATATAAATATAT ATAAATATATATTTATATTTATTTATAAATAAATATAAATATATATTTAT ATTTATTTATAAATAAATATAAATATATATTTATATTTATTTATATATAA ATATAAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT ATATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAG ATTTATATATATTTATATATAAATAACTATAAATATAGATTTATATATAT TTATATATAAATAACTATATAGATTTATATATATTTATATATAAATAACT ATATAGATTTATATATATTTATATATAAATAACTATATAGATTTATATAT ATTTATATATAAATAACTATATAGATTTATATATATTTATATATAAATAA CTATATAGATTTATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp1 HG02809.hp2 NA19043.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0018 a0001c0001 a0012c0018	a0001c0001t0013 a0012c0018t0013 a0001c0001t0013 a0012c0018t0013	a0001c0001t0013g0062 a0012c0018t0013g0061 a0001c0001t0013g0062 a0012c0018t0013g0061	2	208	0.0096	564	c.-97 others(581): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTTATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATAAATATATATTTATAAATAAATAT ATATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAA ATATATATTTATATTTATTTATAAATAAATATAAATATATATTTATATTT ATTTATATATAAATATAAATATATATTTATAGTTATTTATATATAAATAT ATAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAA CTATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAG ATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTAT ATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATAT AGATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTT ATATATAAATAACTATATAGATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(557): Show CCACCACTACCCCCAGCACCATTATCTCCTTCATCACCACTACCCCCACC ACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCAC TACCACCACCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCA TCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACC ACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCAT CACCATCACCTCCACCACCACCACCACCACCACCACCACCATCTCCTTCA TCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACC ACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCAC CATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCC CCACCACTACCACCATCACCATCACCTCCACCACCACCACCATCTCCTTC ATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCAC CACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0146 a0001c0001t0006g0146	1	274	0.0037	564	c.804 others(581): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGG TGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTG GTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGATGGTAGTGCTGGG GGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGG AGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTG GTGATGAAGGAGATAATGGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(557): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0169 a0002c0003t0001g0169	1	308	0.0033	564	c.127 others(583): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQSEC3_chr12_61767_183455	103860	G G	GGTGGGAC others(557): Show GGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCT CAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGG CAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAG GTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGAGGGGAGGC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0017 a0012c0023t0017	a0012c0023t0017g0280 a0012c0023t0017g0280	1	282	0.0036	564	c.623 others(581): Show c.623+4647_623+4648insTGGGACTCAGGAGGGAGAGGTGGAGTTC AGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAG GCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGG CTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGA GGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGG CTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAG GCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGG GGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGG CTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)