Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIP2C_chr10_269201_694668	417746	TCGGATAG others(259): Show TCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCT GCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGG GCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGC CTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCAC CTGCACCTGTCAGGGCG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	-266	c.739 others(17): Show c.739+1053_739+1318del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DPH7_chr9_137549444_137583925	137566634	TCTGTCTG others(259): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02970.hp2 HG01074.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0278 a0001c0001t0002g0256 a0001c0001t0002g0278	2	340	0.0059	-266	c.641 others(17): Show c.641-1746_641-1481del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567460	ACTCTGTC others(259): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGA AGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01257.hp2 others(5): Show HG01081.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG02602.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0266 a0001c0001t0002g0272 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0305	8	340	0.0235	-266	c.641 others(17): Show c.641-2572_641-2307del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818563	GTGTACCG others(259): Show GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	170	0.0059	-266	c.354 others(17): Show c.3540+451_3540+716del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818765	TGTAGAGA others(259): Show TGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGG CGCCGTGTACCGAGACC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	170	0.0059	-266	c.354 others(17): Show c.3540+643_3540+908del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819171	GTGTACCG others(259): Show GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp2 HG02293.hp2 others(1): Show HG01346.hp1 HG01943.hp2 HG02293.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	4	170	0.0235	-266	c.354 others(19): Show c.3540+1059_3540+1324del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERC1_chr12_986223_1500931	1085153	GTTGTTGT others(259): Show GTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGCGATTACAGGCAA TATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTG GCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG02258.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0085 a0002c0002t0127 a0002c0002t0085 a0002c0002t0127	a0002c0002t0085g0142 a0002c0002t0127g0155 a0002c0002t0085g0142 a0002c0002t0127g0155	2	162	0.0124	-266	c.108 others(19): Show c.1086+1641_1086+1906del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137341914	AGGGCTCA others(259): Show AGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCT CAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCA CCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGA GCCGTCTCCCAGGGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGAGCCG TCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCATCAGGAGCCGTCTCCC AGGAGTCAGAGGAAACG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	82	0.0122	-266	c.199 others(19): Show c.1998+5891_1998+6156del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501236	ATATATCT others(259): Show ATATATCTATATATATTATATATATCTATATATTATATATATCTATATAT ATTATATATATCTATATATTATATATATCTATATATATTATATATATCTA TATATATTATATATATCTATATATTATATATATCTATATATATATATTAT ATATATCTATATATATTATATATATCTATATATTATATATATCTATATAT ATTATATATATCTATATATTATATATATCTATATATATTATATATATCTA TATATATTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	272	0.0037	-266	c.238 others(19): Show c.2381-1802_2381-1537del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
GRTP1_chr13_113319163_113369130	113346045	CGAGAGCA others(259): Show CGAGAGCAGACCCGGGAGGACCTCTGCGGCTGAGCAGACCTGGGAAGACA TCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACC CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTG GGAGGACCTCTGTGGCA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	288	0.0035	-266	c.466 others(17): Show c.466-1352_466-1087del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346154	CTCTGTGC others(259): Show CTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGAC CCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCC GAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCT CTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCC AGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGA GCAGACCTGGGAAGACA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	288	0.0035	-266	c.466 others(17): Show c.466-1461_466-1196del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347418	GGACCCGG others(259): Show GGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGT GGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGA GCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAG ACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGG CTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGATCTGGGAGGAC CTCTGTGGCAGAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	288	0.0035	-266	c.466 others(17): Show c.466-2725_466-2460del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347508	GGACCCAG others(259): Show GGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGG CAGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGAT CTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCA GAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGAC CTCTGAAGCCGAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG01891.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0014 a0001c0001t0002g0015	2	288	0.0069	-266	c.466 others(17): Show c.466-2815_466-2550del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
LOC128462377_chr16_89312046_89423292	89400374	CGGTCATC others(259): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0342 a0001c0001t0000g0342	1	366	0.0027	-266	c.9+1 others(15): Show c.9+17644_9+17909del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89400488	CGGTCATC others(259): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0026 a0001c0001t0000g0026	1	366	0.0027	-266	c.9+1 others(15): Show c.9+17530_9+17795del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MAP3K15_chrX_19355059_19520508	19452115	GAAGAGAA others(259): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAG AGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0135	1	163	0.0061	-266	c.995 others(17): Show c.995+4532_995+4797del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20236333	TATAGTAT others(259): Show TATAGTATATATATTTATATATTATATATAAATATATAGTATATATATGA ATATATAGTATATATATTATATATAATATATAGTATATATATTTATATAT TATATATAAATATATAGTATATATATTATATATAAATATATAGTATATAT ATTTATATCTTATATATAAACATATAGTATATATATTTATATTATATAAA TATATAGTATATATATTTATATATTATATATAAATATATAGTATATATAT TTATATATTATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	439	0.0023	-266	c.-30 others(11): Show c.-3009_-2744del	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2952		chr14	TogoVar
OTUD7A_chr15_31470398_31875673	31511012	AACATACA others(259): Show AACATACATGTATATCTATATGTAACATACATGTATATCTATATGTAACA TACATATATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACACACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATACATATGTATAT CTATATGTAACACACAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0200 a0001c0002t0021g0200	1	244	0.0041	-266	c.894 others(17): Show c.894-7460_894-7195del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685809	ACACAGCG others(259): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp2 HG02071.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0001g0045 a0001c0001t0001g0105	2	362	0.0055	-266	c.981 others(17): Show c.981+1937_981+2202del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCSK5_chr9_75885673_76367975	76304530	CGCCCCTA others(259): Show CGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAA CAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAG TAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCA CTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAG AATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTT AATTACTGTATCCATGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02965.hp2 HG03195.hp2	a0004 a0045 a0004 a0045	a0004c0006 a0004c0035 a0004c0058 others(1): Show a0004c0006 a0004c0035 a0004c0058 a0045c0096	a0004c0006t0012 a0004c0035t0047 a0004c0058t0012 others(1): Show a0004c0006t0012 a0004c0035t0047 a0004c0058t0012 a0045c0096t0039	a0004c0006t0012g0143 a0004c0006t0012g0144 a0004c0035t0047g0130 others(2): Show a0004c0006t0012g0143 a0004c0006t0012g0144 a0004c0035t0047g0130 a0004c0058t0012g0054 a0045c0096t0039g0009	5	166	0.0301	-266	c.360 others(19): Show c.3605-2658_3605-2393del	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PNPLA2_chr11_813914_830573	826558	TTCGTTCT others(259): Show TTCGTTCTTGTTGCCCAGTGCAATGGCACAATCTCGGCTCACTGCAAACT CTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGCCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCT CAGGTGATCTGCCCCTGTCTCAGCCCCCCAAAGTGCTGGGATTACAGGCG CCCGGCCTACATGTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0044 a0003c0006t0003g0044	1	442	0.0023	-266	c.16 others(11): Show c.1697_*1962del	PNPLA2	ENSG00000177666.17	transcript	ENST00000336615.9	protein_coding		986		chr11	TogoVar
S1PR4_chr19_3173769_3185332	3178004	TGCAACGC others(259): Show TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCACCGGGCT CTCTGGGCCTCAGTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-266	c.-78 others(9): Show c.-788_-523del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		764		chr19	TogoVar
SCN11A_chr3_38840764_39056944	38877054	ATATATAT others(259): Show ATATATATGGTATATATATGGTGTATATACTATATATATGGTATATATAT GGTGTATATACTATATATATGGTGTATATACTATATATATGGTATATATA TGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATATAT ATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTA TATACTATATATATGGTATATATATGGTGTATATACTATATATATGGTAT ATATATGGTGTATATAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 HG03041.hp1 HG02615.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0273	3	314	0.0096	-266	c.339 others(19): Show c.3393+2630_3393+2895del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288547	TCCCCCGT others(259): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGTTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	290	0.0035	-266	c.166 others(17): Show c.1662+514_1662+779del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289071	TCCCCCGA others(259): Show TCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0020 a0018c0027t0001g0020	1	290	0.0035	-266	c.166 others(18): Show c.1662+1038_1663-931del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3708269	CACCTCCA others(259): Show CACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGT CCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCC CACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTC CATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAG GTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCT CCCACCAGGCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0013 a0004c0057t0013	a0004c0057t0013g0045 a0004c0057t0013g0045	1	116	0.0086	-266	c.713 others(19): Show c.713+66355_713+66620del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC66A2_chr18_79897420_79956653	79919693	GGGGAGAG others(259): Show GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCA GAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGA CAGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0127 a0001c0001t0038g0127	1	352	0.0028	-266	c.392 others(15): Show c.392-559_392-294del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921002	AGGAACCG others(259): Show AGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCT CAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGA CAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0256 a0001c0001t0039g0256	1	352	0.0028	-266	c.392 others(17): Show c.392-1868_392-1603del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SPPL2B_chr19_2323684_2360095	2347299	CTCCTTCT others(259): Show CTCCTTCTCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCCGTTC TCTCTCCACACACACACACTCTCATTCGCCTGATTCCGTTCTCTCTCTCC ACACACGCGCTCTCATTCGCCTGATTCCGTTCTCTCTCTCCACACACACA CACTCTCATTCGCCTGATTCCGTTCTCTCTCCACACACACTCACGCACTC TTATTCGCCTGATTCCGTTCTCTCCCTCCACACACACACTCACGCGCTCT CATTCGCTTGATGCCGT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	2	414	0.0048	-266	c.135 others(19): Show c.1354+1972_1354+2237del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
TBCD_chr17_82747065_82950914	82905635	GCCTGCCC others(259): Show GCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGT CCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGT GGGCTTCCCACAGGTCGTCCGTGTGTGCACGCCGTCGCCTGCCCTCCCGG CCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGCCGTCCGTGTGTGCACGC CGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGG CCGTCCACATGTACACA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0020 a0020	a0020c0042 a0020c0042	a0020c0042t0044 a0020c0042t0044	a0020c0042t0044g0137 a0020c0042t0044g0137	1	318	0.0031	-266	c.180 others(16): Show c.1805-298_1805-33del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	19/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM63C_chr14_77176798_77264495	77220941	CCCTCCCA others(259): Show CCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACG CCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCA CGCCCCCTCACACTCACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACT CATGCCCTGCCTCCCACTCACGCCTCCTCTCTCACTTACACCCCACCTCC CACTCACGCCTCCCCTCCCACTCATGCCCCACCTCCCACTCACACCTCCT CTCTCATTCACACCCCG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	322	0.0031	-266	c.312 others(16): Show c.312+865_312+1130del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM87B_chr2_112050269_112124314	112114712	AAAGATTC others(259): Show AAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG ATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTAC AGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCAT AACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAA AGATGTAGCATTACAGG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0113 a0002c0002t0004g0113	1	316	0.0032	-266	c.160 others(19): Show c.1609-1271_1609-1006del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TNK2_chr3_195858364_195913551	195875065	GCTCCCCC others(259): Show GCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCC CCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGG GATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGG CGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCA CGCACGCTCCGAGGCACACGAAGCTCCCCTCGGGATGGCGCCCACGCACG CTCCGAGGCACAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00639.hp1 others(45): Show HG00140.hp1 HG00423.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02155.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03688.hp2 HG03834.hp2 HG06807.hp2 NA18940.hp1 NA18949.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp2 NA18986.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0013 a0017 a0021	a0001c0003 a0001c0006 a0001c0011 others(19): Show a0001c0003 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0001c0031 a0001c0058 a0001c0061 a0001c0062 a0002c0026 a0002c0057 a0002c0060 a0002c0067 a0002c0068 a0002c0072 a0002c0073 a0002c0074 a0003c0015 a0003c0030 a0013c0076 a0017c0035 a0021c0075	a0001c0003t0001 a0001c0006t0001 a0001c0006t0012 others(22): Show a0001c0003t0001 a0001c0006t0001 a0001c0006t0012 a0001c0011t0001 a0001c0012t0001 a0001c0012t0011 a0001c0014t0004 a0001c0031t0001 a0001c0058t0004 a0001c0061t0001 a0001c0062t0001 a0002c0026t0001 a0002c0026t0009 a0002c0057t0004 a0002c0060t0001 a0002c0067t0001 a0002c0068t0001 a0002c0072t0001 a0002c0073t0001 a0002c0074t0001 a0003c0015t0001 a0003c0030t0001 a0013c0076t0001 a0017c0035t0004 a0021c0075t0001	a0001c0003t0001g0138 a0001c0006t0001g0061 a0001c0006t0001g0066 others(44): Show a0001c0003t0001g0138 a0001c0006t0001g0061 a0001c0006t0001g0066 a0001c0006t0001g0069 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0083 a0001c0006t0001g0092 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0006t0001g0229 a0001c0006t0012g0065 a0001c0011t0001g0060 a0001c0011t0001g0081 a0001c0011t0001g0107 a0001c0011t0001g0108 a0001c0011t0001g0231 a0001c0012t0001g0067 a0001c0012t0001g0071 a0001c0012t0001g0075 a0001c0012t0001g0085 a0001c0012t0001g0088 a0001c0012t0011g0102 a0001c0014t0004g0002 a0001c0031t0001g0089 a0001c0031t0001g0090 a0001c0058t0004g0237 a0001c0061t0001g0238 a0001c0062t0001g0239 a0002c0026t0001g0074 a0002c0026t0009g0099 a0002c0057t0004g0236 a0002c0060t0001g0240 a0002c0067t0001g0082 a0002c0068t0001g0063 a0002c0072t0001g0091 a0002c0073t0001g0068 a0002c0074t0001g0073 a0003c0015t0001g0020 a0003c0015t0001g0064 a0003c0015t0001g0080 a0003c0015t0001g0084 a0003c0030t0001g0072 a0013c0076t0001g0078 a0017c0035t0004g0233 a0021c0075t0001g0079	48	372	0.1290	-266	c.125 others(19): Show c.1257-2861_1257-2596del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133292024	TCTGTGTC others(259): Show TCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCC GTGTCCCTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	284	0.0035	-266	c.121 others(17): Show c.1214+209_1214+474del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TXK_chr4_48061393_48139250	48104268	AATATAAT others(259): Show AATATAATATATAATATATATAATATATAATATAATATATAATATATATA ATATATAATATAATATATAATATATATAATATATAATATAATATATAATA TATATAATATATAATATTATATATAATATATATAATATATAATATTATAT ATAATATATATAATATATAATATTATATATAATATATATAATATATAATA TTATATATTATATATATAATATATAATATTATATATTATATATATAATAT ATAATATTATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01981.hp1 HG01993.hp1 others(1): Show HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151	4	362	0.0111	-266	c.501 others(15): Show c.501+367_501+632del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
VCX3B_chrX_8459830_8471510	8466559	GGGAAGAG others(259): Show GGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02015.hp1 NA18974.hp1 HG01261.hp1 HG02015.hp1 NA18974.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0004c0033 a0010c0011 a0004c0004 a0004c0033 a0010c0011	a0004c0004t0013 a0004c0033t0004 a0010c0011t0004 a0004c0004t0013 a0004c0033t0004 a0010c0011t0004	a0004c0004t0013g0002 a0004c0033t0004g0002 a0010c0011t0004g0002 a0004c0004t0013g0002 a0004c0033t0004g0002 a0010c0011t0004g0002	3	271	0.0111	-266	c.17 others(9): Show c.177_*442del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		50		chrX	TogoVar
WDR64_chr1_241647281_241807777	241745420	TGAAATGT others(259): Show TGAAATGTGGTTGTTGAGATTCTGAGCAATGTACACAATTATTATCAGGC AGAAGCATTAAGCAATTCAATATATGACTGACAATAGTATTGTTTATATG CAAGCAAGCCATATTTTACATTGTTAGTTCTAGAACCTAGAATTCTTTCA GATATTGAGTTTGTCCTCCTCAAAGGTACATACGTTAAATTTATTTTATT GTGTTTATTTATTTGGAGTCAGAGTCTCACTGTGTTGCCCAGGCTGGTCT TAAAGTCCTGGCTTCAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01981.hp2 HG02055.hp2 others(7): Show HG01891.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02615.hp2 HG02818.hp1 HG02970.hp1 HG03195.hp2 NA20129.hp1	a0002 a0010 a0002 a0010	a0002c0004 a0002c0006 a0010c0015 a0002c0004 a0002c0006 a0010c0015	a0002c0004t0003 a0002c0006t0001 a0002c0006t0003 others(1): Show a0002c0004t0003 a0002c0006t0001 a0002c0006t0003 a0010c0015t0001	a0002c0004t0003g0011 a0002c0004t0003g0062 a0002c0004t0003g0155 others(7): Show a0002c0004t0003g0011 a0002c0004t0003g0062 a0002c0004t0003g0155 a0002c0004t0003g0310 a0002c0004t0003g0315 a0002c0004t0003g0316 a0002c0004t0003g0317 a0002c0006t0001g0313 a0002c0006t0003g0321 a0010c0015t0001g0325	10	326	0.0307	-266	c.159 others(18): Show c.1594+906_1594+1171del	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB42_chr14_104796101_104809712	104808072	CAGCACCC others(259): Show CAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	-266	c.56 others(11): Show c.5607_*5872del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3361		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808148	GAGCACCC others(259): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	99	0.0101	-266	c.56 others(11): Show c.5683_*5948del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3437		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808198	ACTCCCCA others(259): Show ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18985.hp2 HG02976.hp2 NA18985.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0002 a0003c0007t0002 a0002c0002t0002 a0003c0007t0002	a0002c0002t0002g0000 a0003c0007t0002g0000 a0002c0002t0002g0000 a0003c0007t0002g0000	2	99	0.0202	-266	c.57 others(11): Show c.5733_*5998del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3487		chr14	TogoVar
ACAP3_chr1_1287391_1312930	1289843	CCGTGTCC others(258): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 NA19077.hp2 HG01346.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0153 a0001c0001t0001g0052 a0001c0001t0002g0153	2	295	0.0068	-265	c.34 others(11): Show c.3456_*3720del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2547		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6152286	TTTTTTTT others(258): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp1 others(8): Show HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02559.hp2 HG02630.hp2 HG02897.hp1 HG02965.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0004 a0013c0016 a0001c0001 a0003c0004 a0013c0016	a0001c0001t0001 a0003c0004t0002 a0013c0016t0001 a0001c0001t0001 a0003c0004t0002 a0013c0016t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0003c0004t0002g0006 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0013c0016t0001g0014	11	262	0.0420	-265	c.386 others(15): Show c.386+507_386+771del	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
AHI1_chr6_135278532_135502740	135363654	CGGGGCGG others(258): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCT GGCCGGGCGGGGGTTGACCCCCCCACCTCCCTCCGGGACGGGGTGGTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGCGCGGCCGGGCAGAGGCGC CCCTCACCCCCCGGACGGGGCGGCTGGCCGGACGGGGGGCTGACCCCCCC CACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	220	0.0046	-265	c.311 others(19): Show c.3110-5732_3110-5468del	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AMFR_chr16_56356452_56430545	56397866	TAATATAT others(258): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATAT AAATGTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0330 a0001c0001t0013g0330	1	356	0.0028	-265	c.108 others(19): Show c.1085+3602_1085+3866del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56397888	TAATATAT others(258): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATAT AACTCTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00741.hp2 others(32): Show HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01256.hp2 HG01884.hp2 HG02129.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03490.hp1 HG03516.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18962.hp1 NA18983.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19077.hp1 NA19083.hp2 NA19085.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0001t0043 a0001c0001t0051	a0001c0001t0001g0177 a0001c0001t0004g0143 a0001c0001t0004g0144 others(32): Show a0001c0001t0001g0177 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0163 a0001c0001t0004g0172 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0006g0015 a0001c0001t0009g0217 a0001c0001t0016g0141 a0001c0001t0016g0148 a0001c0001t0016g0195 a0001c0001t0016g0200 a0001c0001t0025g0142 a0001c0001t0029g0002 a0001c0001t0032g0045 a0001c0001t0043g0197 a0001c0001t0051g0343	35	356	0.0983	-265	c.108 others(19): Show c.1085+3580_1085+3844del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
BRF1_chr14_105204286_105306001	105275918	TGAGAGGC others(258): Show TGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCTGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	72	0.0139	-265	c.266 others(17): Show c.266-3289_266-3025del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276349	CGGCCCTC others(258): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGA GAAGGAGCCGAGAGGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	72	0.0139	-265	c.266 others(17): Show c.266-3720_266-3456del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276720	CGGCCCTC others(258): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGA GAAGGAGCTGAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	72	0.0139	-265	c.266 others(17): Show c.266-4091_266-3827del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276945	GGAGCTGG others(258): Show GGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCAC TAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCT CACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGC CCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGG GGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGA GGGGGCCCTCACTAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00673.hp2 others(7): Show HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01109.hp1 HG01123.hp2 HG02630.hp1 HG03540.hp1 HG03540.hp2 HG03834.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0009 a0001c0001t0001 a0001c0001t0002 a0001c0003t0009	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0022 a0001c0003t0009g0001	10	72	0.1389	-265	c.266 others(17): Show c.266-4316_266-4052del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277084	CGAGAGGC others(258): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	72	0.0139	-265	c.266 others(17): Show c.266-4455_266-4191del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar

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